Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K|MAF: 0.01 (T)
Location

Chromosome 1:55039974 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM061163

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.55039974G>T
ENST00000302118.5:c.137G>T
ENSP00000303208.5:p.Arg46Leu
LRG_275:g.5428G>T
LRG_275t1:c.137G>T
LRG_275p1:p.Arg46Leu

Genotyping chips

This variant has assays on 9 chips - Show

About this variant

This variant overlaps 2 transcripts, 1 regulatory feature, has 3148 sample genotypes, is associated with 4 phenotypes and is mentioned in 41 citations.

Variant displays