Original source

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

C/T|Ancestral: C|Ambiguity code: Y

Chromosome 1:43340042 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4753965, COSM4753964 ; HGMD-PUBLIC CM002060

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 4167

HGVS names

This variant has 10 HGVS names - Show

About this variant

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

Variant displays