Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 1:115033507 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM890112

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5592

HGVS names

This variant has 5 HGVS names - Hide

1:g.115033507G>A
ENST00000256592.2:c.145G>A
ENSP00000256592.1:p.Gly49Arg
ENST00000369517.1:c.145G>A
ENSP00000358530.1:p.Gly49Arg

About this variant

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

Variant displays