Original source

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

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

Chromosome 11:17427124 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM107080, CM961360

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 9246, NG_008867.1:g.54779G>T_1278134232

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 7 transcripts and is associated with 3 phenotypes.

Variant displays