ConVarT

DNMT3A (GeneID: 1788) | Homo sapiens

Description:	DNA methyltransferase 3 alpha [Source:HGNC Symbol;Acc:HGNC:2978]
Synonyms:	DNMT3A2, TBRS, M.HsaIIIA
Other ID(s):	ENSG00000119772, HGNC:2978
Protein Accession Numbers:	ENST00000264709.3, NP_001362748, ENST00000406659, ENST00000380746, NP_715640, ENST00000264709, NP_001307822, ENST00000402667, NP_783329, ENST00000321117, NP_072046, NP_001307821, ENST00000380756, NP_783328
Statistics:	ClinVar(112)

ClinVar Pathogenicity of Variations

Benign

Conflicting

Pathogenic

Others

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.
ENST00000264709 ENST00000321117 ENST00000380746 ENST00000380756 ENST00000402667 ENST00000406659 NP_001307821 NP_001307822 You are here now! NP_001362748 NP_072046 NP_715640 NP_783328 NP_783329

ClinVar Data

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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 ;	0.507	0.69
Crohn Disease	Digestive System Diseases ;	0.507	0.69
Cytopenia	N/A	0.507	0.69
Growth Disorders	Pathological Conditions, Signs and Symptoms ;	0.507	0.69
Profound Mental Retardation	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.507	0.69
Angioimmunoblastic Lymphadenopathy	Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.507	0.69
Acute monocytic leukemia	Neoplasms ;	0.507	0.69
Leukemia, Myelocytic, Acute	Neoplasms ;	0.507	0.69
Leukemia, Myelomonocytic, Chronic	Neoplasms ; Hemic and Lymphatic Diseases ;	0.507	0.69
Acute Promyelocytic Leukemia	Neoplasms ;	0.507	0.69
Lung Neoplasms	Neoplasms ; Respiratory Tract Diseases ;	0.507	0.69
Mental Retardation, Psychosocial	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.507	0.69
Acute Myeloid Leukemia, M1	Neoplasms ;	0.507	0.69
Neoplasm Recurrence, Local	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.507	0.69
Sezary Syndrome	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.507	0.69
Lymphoma, T-Cell, Cutaneous	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.507	0.69
Peripheral T-Cell Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.507	0.69
Crohn's disease of large bowel	Digestive System Diseases ;	0.507	0.69
Congenital anemia	N/A	0.507	0.69
Malignant neoplasm of lung	Neoplasms ; Respiratory Tract Diseases ;	0.507	0.69
Crohn's disease of the ileum	Digestive System Diseases ;	0.507	0.69
Facies	Pathological Conditions, Signs and Symptoms ;	0.507	0.69
Juvenile Myelomonocytic Leukemia	Neoplasms ; Hemic and Lymphatic Diseases ;	0.507	0.69
Granulomatous Slack Skin	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.507	0.69
Craniofacial Abnormalities	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.507	0.69
Regional enteritis	Digestive System Diseases ;	0.507	0.69
Breast Carcinoma	Neoplasms ; Skin and Connective Tissue Diseases ;	0.507	0.69
Mental deficiency	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.507	0.69
IIeocolitis	Digestive System Diseases ;	0.507	0.69
Mammary Neoplasms, Human	Neoplasms ; Skin and Connective Tissue Diseases ;	0.507	0.69
Mammary Neoplasms	Neoplasms ; Skin and Connective Tissue Diseases ;	0.507	0.69
Autism Spectrum Disorders	Mental Disorders ;	0.507	0.69
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.507	0.69
Clear-cell metastatic renal cell carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.507	0.69
cocaine use	N/A	0.507	0.69
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.507	0.69
TATTON-BROWN-RAHMAN SYNDROME	N/A	0.507	0.69
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data