Original source

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

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

Chromosome 11:64752071 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM994571

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 15734

HGVS names

This variant has 5 HGVS names - Hide

11:g.64752071C>A
ENST00000164139.3:c.1621G>T
ENSP00000164139.3:p.Glu541Ter
ENST00000377432.7:c.1357G>T
ENSP00000366650.3:p.Glu453Ter

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays