Original source

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

G/C/T | Ancestral: G | Ambiguity code: B

Chromosome 4:54733154 (forward strand) | View in location tab


with COSMIC COSM1310 (G/T), COSM1313 (G/A), COSM1311 (G/C) ; PhenCode KinMutBase_KIT_DNA:g.76139G>C (G/C), KinMutBase_KIT_DNA:g.76139G>T (G/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 9 synonyms - click the plus to show

This variant has 18 HGVS names - click the plus to show

About this variant

This variant overlaps 8 transcripts and is associated with 4 phenotypes.

Variant displays