Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 4:54736528 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1324 ; PhenCode KinMutBase_KIT_DNA:g.79513G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays