Original source

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

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

Chromosome 11:47447859 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM073303

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10271

This variant has 9 HGVS names - click the plus to show

11:g.47447859C>T
ENST00000352508.7:c.484G>A
ENSP00000298853.3:p.Glu162Lys
ENST00000298854.6:c.484G>A
ENSP00000298854.2:p.Glu162Lys
ENST00000529341.1:c.484G>A
ENSP00000431732.1:p.Glu162Lys
ENST00000524487.5:c.484G>A
ENSP00000435551.2:p.Glu162Lys

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays