Original source

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

Alleles
A/T|Ancestral: A|Ambiguity code: W
Location

Chromosome 4:54733155 (forward strand)|View in location tab

Co-located variants

COSMIC COSM12711, COSM1314, COSM24675 ; HGMD-PUBLIC CM952169 ; PhenCode KinMutBase_KIT_DNA:g.76140A>T (A/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

About this variant

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

Variant displays