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 1:173911942 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM910056

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 365

HGVS names

This variant has 9 HGVS names - Hide

1:g.173911942G>A
ENST00000367698.3:c.481C>T
ENSP00000356671.3:p.Arg161Ter
ENST00000487183.1:n.186C>T
ENST00000617423.4:c.481C>T
ENSP00000478688.1:p.Arg161Ter
LRG_577:g.10437C>T
LRG_577t1:c.481C>T
LRG_577p1:p.Arg161Ter

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays