ConVarT

CSF1R (GeneID: 1436) | Homo sapiens

Description:	colony stimulating factor 1 receptor [Source:HGNC Symbol;Acc:HGNC:2433]
Synonyms:	FMS, CSFR, C-FMS, FIM2, CSF-1R, M-CSF-R, DLS, CD115
Other ID(s):	ENSG00000182578, HGNC:2433
Protein Accession Numbers:	ENST00000515068, NP_001362250, ENST00000286301.3, NP_001275634, ENST00000511344, NP_001362249, ENST00000286301, ENST00000543093, NP_005202, ENST00000504875, NP_001336665
Statistics:	ClinVar(157)

ClinVar Pathogenicity of Variations

Benign

Conflicting

Pathogenic

VUS

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000286301 ENST00000504875 ENST00000511344 ENST00000515068 ENST00000543093 NP_001275634 NP_001336665 NP_001362249 NP_001362250 NP_005202

ClinVar Data

Show entries

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

gnomAD

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
No data available in table

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

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
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.508	0.655
Malignant Neoplasms	Neoplasms ;	0.508	0.655
Leukemia, Myelocytic, Acute	Neoplasms ;	0.508	0.655
Leukodystrophy	N/A	0.508	0.655
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.508	0.655
Acute Myeloid Leukemia, M1	Neoplasms ;	0.508	0.655
Neoplasm Metastasis	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.508	0.655
Neoplasms	Neoplasms ;	0.508	0.655
Parkinson Disease	Nervous System Diseases ;	0.508	0.655
Benign Neoplasm	Neoplasms ;	0.508	0.655
Squamous cell carcinoma of lung	N/A	0.508	0.655
Leukoencephalopathies	Nervous System Diseases ;	0.508	0.655
Hematologic Neoplasms	Neoplasms ; Hemic and Lymphatic Diseases ;	0.508	0.655
Breast Carcinoma	Neoplasms ; Skin and Connective Tissue Diseases ;	0.508	0.655
Mammary Neoplasms, Human	Neoplasms ; Skin and Connective Tissue Diseases ;	0.508	0.655
Mammary Neoplasms	Neoplasms ; Skin and Connective Tissue Diseases ;	0.508	0.655
Childhood Ataxia with Central Nervous System Hypomyelinization	Nervous System Diseases ;	0.508	0.655
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.508	0.655
MYELODYSPLASTIC SYNDROME	Hemic and Lymphatic Diseases ;	0.508	0.655
Hereditary Diffuse Leukoencephalopathy with Spheroids	Nervous System Diseases ;	0.508	0.655
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.508	0.655
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data