Original source

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

C/A/T|Ancestral: C|Ambiguity code: H

Chromosome 5:136046406 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3769970 ; HGMD-PUBLIC CM991173, CM971473

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 22912, 10443

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 18 transcripts and is associated with 4 phenotypes.

Variant displays