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 17:65536495 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM041253

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 12344

HGVS names

This variant has 12 HGVS names - Hide

17:g.65536495G>A
ENST00000375702.5:c.1771C>T
ENSP00000364854.5:p.Arg591Ter
ENST00000618960.4:c.1771C>T
ENSP00000478916.1:p.Arg591Ter
ENST00000578251.1:n.188C>T
ENST00000307078.9:c.1966C>T
ENSP00000302625.5:p.Arg656Ter
ENST00000611991.1:c.397-7795C>T
LRG_296:g.30128C>T
LRG_296t1:c.1966C>T
LRG_296p1:p.Arg656Ter

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays