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 2:127426207 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM116761, CM910315

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB PC-HY15, 17271

HGVS names

This variant has 10 HGVS names - Hide

2:g.127426207C>T
ENST00000409048.1:c.760C>T
ENSP00000386679.1:p.Arg254Trp
ENST00000402125.2:c.121-2150C>T
ENST00000464089.1:n.244C>T
ENST00000234071.7:c.658C>T
ENSP00000234071.3:p.Arg220Trp
LRG_599:g.12788C>T
LRG_599t1:c.658C>T
LRG_599p1:p.Arg220Trp

About this variant

This variant overlaps 12 transcripts and is associated with 2 phenotypes.

Variant displays