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 2:127427219 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM910316

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17278

HGVS names

This variant has 9 HGVS names - Hide

2:g.127427219C>T
ENST00000409048.1:c.895C>T
ENSP00000386679.1:p.Leu299Phe
ENST00000402125.2:c.121-1138C>T
ENST00000234071.7:c.793C>T
ENSP00000234071.3:p.Leu265Phe
LRG_599:g.13800C>T
LRG_599t1:c.793C>T
LRG_599p1:p.Leu265Phe

About this variant

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

Variant displays