Original source

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

with HGMD-PUBLIC CM061163

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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

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

This variation has assays on 9 chips - click the plus to show

About this variant

This variant overlaps 3 transcripts, has 3148 individual genotypes, is associated with 4 phenotypes and is mentioned in 40 citations.

Variation displays