Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM994571

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 15734

This variant has 5 HGVS names - click the plus to show

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