Original source

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

C/A | Ancestral: C | Ambiguity code: M

Chromosome 5:60944972 (forward strand) | View in location tab


with HGMD-PUBLIC CM043838

Most severe consequence
Stop gained
Evidence status

Clinical significance

HGVS names

This variant has 11 HGVS names - Show

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays