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 1:109610108 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM021611

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2414

HGVS names

This variant has 6 HGVS names - Hide

1:g.109610108G>A
ENST00000369851.5:c.*17786G>A
ENST00000351050.7:c.235C>T
ENSP00000251337.3:p.Gln79Ter
ENST00000622865.1:c.235C>T
ENSP00000482596.1:p.Gln79Ter

About this variant

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

Variant displays