Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM031324

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

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