DoCM - Database of Curated Mutations

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Variant Data

Location

HGVS: ENST00000458235:c.2164G>A
Reference Version: GRCh37
Chromosome: 19
Start: 17945696
Stop: 17945696
Strand: -1
Transcript: ENST00000458235 (ensembl - 74_37)
Gene: JAK3 ( View drug interactions on DGIdb )

Information

Reference: C
Variant: T
Amino Acid: p.V722I
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.2164
Tags: likely pathogenic activating

Disease Data

Disease	Source	Batch	Tags	External Links
acute lymphocytic leukemia	MacConaill et al., 2014, J Mol Diagn	Oncomap Variants (View variants)	likely pathogenic
megakaryocytic leukemia	Walters et al., 2006, Cancer Cell	Kin-Driver (View variants)	activating likely pathogenic

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