Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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


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

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

About this variant

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

Variant displays