Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 1:55044016 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM031324

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 6 HGVS names - Hide

1:g.55044016T>A
ENST00000302118.5:c.381T>A
ENSP00000303208.5:p.Ser127Arg
LRG_275:g.9470T>A
LRG_275t1:c.381T>A
LRG_275p1:p.Ser127Arg

About this variant

This variant overlaps 2 transcripts and is associated with 3 phenotypes.

Variant displays