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 11:124875581 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM061187

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 15861

HGVS names

This variant has 5 HGVS names - Hide

11:g.124875581C>T
ENST00000538940.5:c.2251C>T
ENSP00000441797.1:p.Gln751Ter
ENST00000397801.5:c.2317C>T
ENSP00000380903.1:p.Gln773Ter

About this variant

This variant overlaps 21 transcripts and is associated with 2 phenotypes.

Variant displays