Original source

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

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

Chromosome 11:116835948 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM117827

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 450

HGVS names

This variant has 14 HGVS names - Show

About this variant

This variant overlaps 11 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays