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 2:127428426 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM920594

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17270

HGVS names

This variant has 10 HGVS names - Hide

2:g.127428426C>T
ENST00000402125.2:c.190C>T
ENSP00000384225.2:p.Pro64Leu
ENST00000409048.1:c.968C>T
ENSP00000386679.1:p.Pro323Leu
ENST00000234071.7:c.866C>T
ENSP00000234071.3:p.Pro289Leu
LRG_599:g.15007C>T
LRG_599t1:c.866C>T
LRG_599p1:p.Pro289Leu

About this variant

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

Variant displays