ConVarT

ClinVar Data

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Missense Variant

Splice Region Variant

Stop Lost

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
12-102796321-A-T	ENST00000392905	p.Ter140LysextTer?	Stop Lost	0	0	0	rs1357184397
12-102796326-C-A	ENST00000392905	p.Arg138Leu	Missense Variant	0	0	0	rs367603396
12-102796326-C-T	ENST00000392905	p.Arg138His	Missense Variant	0	0	0	rs367603396
12-102796327-G-A	ENST00000392905	p.Arg138Cys	Missense Variant	1	31380	0.000032	rs536666389
12-102796334-A-C	ENST00000392905	p.Phe135Leu	Missense Variant	0	0	0	rs1480128697
12-102811733-C-T	ENST00000392905	p.Gly132Arg	Missense Variant	0	0	0	rs1218506999	os_lof
12-102811737-C-T	ENST00000392905	p.Arg130Arg	Synonymous Variant	0	0	0	rs1287216481	mnv
12-102811738-C-T	ENST00000392905	p.Arg130Lys	Missense Variant	0	0	0	rs1490271682	mnv
12-102811741-C-T	ENST00000392905	p.Arg129Lys	Missense Variant	0	0	0	rs769928521
12-102811743-C-T	ENST00000392905	p.Gln128Gln	Synonymous Variant	0	0	0	rs1271402807
12-102811746-A-G	ENST00000392905	p.Ser127Ser	Synonymous Variant	0	0	0	rs1478472112
12-102811750-T-A	ENST00000392905	p.Lys126Met	Missense Variant	0	0	0	rs770824241
12-102811752-C-T	ENST00000392905	p.Thr125Thr	Synonymous Variant	49	31402	0.00156	rs186353772
12-102811752-CG-C	ENST00000392905	p.Thr125ArgfsTer?	Frameshift Variant	0	0	0	rs186353772	lof_flag
12-102811753-G-A	ENST00000392905	p.Thr125Met	Missense Variant	3	31396	0.000096	rs369105057
12-102811753-G-T	ENST00000392905	p.Thr125Lys	Missense Variant	0	0	0	rs369105057
12-102811755-G-A	ENST00000392905	p.Asn124Asn	Synonymous Variant	0	0	0	rs367610532
12-102811773-G-T	ENST00000392905	p.Pro118Pro	Synonymous Variant	1	31392	0.000032	rs774537886
12-102811774-G-T	ENST00000392905	p.Pro118His	Missense Variant	1	31398	0.000032	rs759967373
12-102813287-C-T	ENST00000392905	p.Lys115Lys	Splice Region Variant	0	0	0	rs776125139

Showing 1 to 20 of 111 entries

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Post-translational Modifications (PTMs)

Phosphorylation

Ubiquitination

Show entries

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
IGF1	P05019	Ubiquitination	134	K134-ub	TDMPKTQkyQPPSTN	21.84	964520502
IGF1	P05019	Phosphorylation	135	Y135-p	DMPKTQkyQPPSTNK	21.84	23115138
IGF1	P05019	Phosphorylation	184	S184-p	EQRREIGsRNAECRG	21.84	23115136

Showing 1 to 3 of 3 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00049	Insulin	Insulin/IGF/Relaxin family	61-93	CL0239	Insulin	Mus musculus
PF00049	Insulin	Insulin/IGF/Relaxin family	35-70	CL0239	Insulin	Mus musculus

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Spontaneous abortion	Female Urogenital Diseases and Pregnancy Complications ;	0.355	0.828
Abortion, Tubal	Female Urogenital Diseases and Pregnancy Complications ;	0.355	0.828
Acromegaly	Musculoskeletal Diseases ; Nervous System Diseases ; Endocrine System Diseases ;	0.355	0.828
Adenoma	Neoplasms ;	0.355	0.828
Alloxan Diabetes	Nutritional and Metabolic Diseases ; Endocrine System Diseases ;	0.355	0.828
Alzheimer's Disease	Nervous System Diseases ; Mental Disorders ;	0.355	0.828
Autistic Disorder	Mental Disorders ;	0.355	0.828
Bipolar Disorder	Mental Disorders ;	0.355	0.828
Malignant neoplasm of urinary bladder	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.355	0.828
Bladder Neoplasm	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.355	0.828
Metabolic Bone Disorder	Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ;	0.355	0.828
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.355	0.828
Malignant neoplasm of skin	Neoplasms ; Skin and Connective Tissue Diseases ;	0.355	0.828
Cholestasis	Digestive System Diseases ;	0.355	0.828
Colitis	Digestive System Diseases ;	0.355	0.828
Corneal Diseases	Eye Diseases ;	0.355	0.828
Crohn Disease	Digestive System Diseases ;	0.355	0.828
Delirium	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.355	0.828
Presenile dementia	Nervous System Diseases ; Mental Disorders ;	0.355	0.828
Demyelinating Diseases	Nervous System Diseases ;	0.355	0.828
Demyelination	Nervous System Diseases ;	0.355	0.828
Mental Depression	Behavior and Behavior Mechanisms ;	0.355	0.828
Depressive disorder	Mental Disorders ;	0.355	0.828
Diabetes Mellitus, Experimental	Nutritional and Metabolic Diseases ; Endocrine System Diseases ;	0.355	0.828
Diabetes Mellitus, Insulin-Dependent	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.355	0.828
Drug toxicity	Chemically-Induced Disorders ;	0.355	0.828
Endometriosis	Female Urogenital Diseases and Pregnancy Complications ;	0.355	0.828
Cardiomegaly	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Hepatitis, Toxic	Digestive System Diseases ; Chemically-Induced Disorders ;	0.355	0.828
Diaphragmatic Hernia	Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Hyperalgesia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Hypertensive disease	Cardiovascular Diseases ;	0.355	0.828
Kidney Diseases	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.355	0.828
Kidney Failure, Acute	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.355	0.828
Kidney Failure, Chronic	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.355	0.828
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.355	0.828
Mammary Neoplasms, Experimental	Neoplasms ;	0.355	0.828
Muscular Atrophy	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Neoplasm Invasiveness	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Neoplasm Metastasis	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Nerve Degeneration	Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Osteogenesis Imperfecta	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.355	0.828
Osteopenia	Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ;	0.355	0.828
Peripheral Neuropathy	Nervous System Diseases ;	0.355	0.828
Pituitary Adenoma	Neoplasms ; Nervous System Diseases ; Endocrine System Diseases ;	0.355	0.828
Pituitary Neoplasms	Neoplasms ; Nervous System Diseases ; Endocrine System Diseases ;	0.355	0.828
Prostatic Neoplasms	Neoplasms ; Male Urogenital Diseases ;	0.355	0.828
Precocious Puberty	Endocrine System Diseases ;	0.355	0.828
Pulmonary Fibrosis	Respiratory Tract Diseases ;	0.355	0.828
Skin Neoplasms	Neoplasms ; Skin and Connective Tissue Diseases ;	0.355	0.828
Streptozotocin Diabetes	Nutritional and Metabolic Diseases ; Endocrine System Diseases ;	0.355	0.828
Adverse reaction to drug	Chemically-Induced Disorders ;	0.355	0.828
Alcohol abuse	Chemically-Induced Disorders ; Mental Disorders ;	0.355	0.828
Hamman-Rich syndrome	Respiratory Tract Diseases ;	0.355	0.828
Myocardial Ischemia	Cardiovascular Diseases ;	0.355	0.828
Crohn's disease of large bowel	Digestive System Diseases ;	0.355	0.828
Russell-Silver syndrome	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.355	0.828
Adenoma, Basal Cell	Neoplasms ;	0.355	0.828
Follicular adenoma	Neoplasms ;	0.355	0.828
Adenoma, Microcystic	Neoplasms ;	0.355	0.828
Adenoma, Monomorphic	Neoplasms ;	0.355	0.828
Papillary adenoma	Neoplasms ;	0.355	0.828
Adenoma, Trabecular	Neoplasms ;	0.355	0.828
Diabetes, Autoimmune	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.355	0.828
Middle Cerebral Artery Syndrome	Nervous System Diseases ; Cardiovascular Diseases ;	0.355	0.828
Crohn's disease of the ileum	Digestive System Diseases ;	0.355	0.828
Endometrioma	Female Urogenital Diseases and Pregnancy Complications ;	0.355	0.828
Neurogenic Muscular Atrophy	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Familial Alzheimer Disease (FAD)	Nervous System Diseases ; Mental Disorders ;	0.355	0.828
Brittle diabetes	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.355	0.828
Pituitary carcinoma	Neoplasms ; Nervous System Diseases ; Endocrine System Diseases ;	0.355	0.828
Malignant neoplasm of prostate	Neoplasms ; Male Urogenital Diseases ;	0.355	0.828
Primary microcephaly	N/A	0.355	0.828
Allodynia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Alzheimer Disease, Late Onset	Nervous System Diseases ; Mental Disorders ;	0.355	0.828
Acute Confusional Senile Dementia	Nervous System Diseases ; Mental Disorders ;	0.355	0.828
Regional enteritis	Digestive System Diseases ;	0.355	0.828
Breast Carcinoma	Neoplasms ; Skin and Connective Tissue Diseases ;	0.355	0.828
Middle Cerebral Artery Thrombosis	Nervous System Diseases ; Cardiovascular Diseases ;	0.355	0.828
Middle Cerebral Artery Occlusion	Nervous System Diseases ; Cardiovascular Diseases ;	0.355	0.828
Infarction, Middle Cerebral Artery	Nervous System Diseases ; Cardiovascular Diseases ;	0.355	0.828
Alzheimer's Disease, Focal Onset	Nervous System Diseases ; Mental Disorders ;	0.355	0.828
Alzheimer Disease, Early Onset	Nervous System Diseases ; Mental Disorders ;	0.355	0.828
Hyperalgesia, Primary	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Hyperalgesia, Secondary	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Tactile Allodynia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Hyperalgesia, Thermal	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Middle Cerebral Artery Embolus	Nervous System Diseases ; Cardiovascular Diseases ;	0.355	0.828
Left Middle Cerebral Artery Infarction	Nervous System Diseases ; Cardiovascular Diseases ;	0.355	0.828
Embolic Infarction, Middle Cerebral Artery	Nervous System Diseases ; Cardiovascular Diseases ;	0.355	0.828
Thrombotic Infarction, Middle Cerebral Artery	Nervous System Diseases ; Cardiovascular Diseases ;	0.355	0.828
Right Middle Cerebral Artery Infarction	Nervous System Diseases ; Cardiovascular Diseases ;	0.355	0.828
Diabetic Cardiomyopathies	Cardiovascular Diseases ; Endocrine System Diseases ;	0.355	0.828
Drug-Induced Liver Disease	Digestive System Diseases ; Chemically-Induced Disorders ;	0.355	0.828
IIeocolitis	Digestive System Diseases ;	0.355	0.828
Mammary Neoplasms, Human	Neoplasms ; Skin and Connective Tissue Diseases ;	0.355	0.828
Hepatitis, Drug-Induced	Digestive System Diseases ; Chemically-Induced Disorders ;	0.355	0.828
Cardiac Hypertrophy	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Mammary Neoplasms	Neoplasms ; Skin and Connective Tissue Diseases ;	0.355	0.828
Acute Kidney Insufficiency	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.355	0.828
Female Urogenital Diseases	Female Urogenital Diseases and Pregnancy Complications ;	0.355	0.828
Insulin-Like Growth Factor I Deficiency	Otorhinolaryngologic Diseases ; Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Clinically Isolated Syndrome, CNS Demyelinating	Nervous System Diseases ;	0.355	0.828
Acute kidney injury	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.355	0.828
Mechanical Allodynia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.355	0.828
Drug-Induced Acute Liver Injury	Digestive System Diseases ; Chemically-Induced Disorders ;	0.355	0.828
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.355	0.828
Diabetes Mellitus, Ketosis-Prone	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.355	0.828
Chemical and Drug Induced Liver Injury	Digestive System Diseases ; Chemically-Induced Disorders ;	0.355	0.828
Chemically-Induced Liver Toxicity	Digestive System Diseases ; Chemically-Induced Disorders ;	0.355	0.828
NO RESULT FOUND

Description:	insulin like growth factor 1 [Source:HGNC Symbol;Acc:HGNC:5464]
Synonyms:	IGF-I, MGF, IGFI
Other ID(s):	ENSG00000017427, HGNC:5464
Protein Accession Numbers:	ENST00000307046.8, NP_001104754, ENST00000456098, ENST00000392904, ENST00000307046, NP_001104753, ENST00000424202, ENST00000337514, NP_001104755, NP_000609, ENST00000392905
Statistics:	gnomAD(111) PTM(3)

Classification of Clinicial Significance of ClinVar Data