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 2:127428495 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM951016

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17283, PC-HY14

HGVS names

This variant has 10 HGVS names - Hide

2:g.127428495C>T
ENST00000402125.2:c.259C>T
ENSP00000384225.2:p.Ser87Leu
ENST00000409048.1:c.1037C>T
ENSP00000386679.1:p.Ser346Leu
ENST00000234071.7:c.935C>T
ENSP00000234071.3:p.Ser312Leu
LRG_599:g.15076C>T
LRG_599t1:c.935C>T
LRG_599p1:p.Ser312Leu

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays