Original source

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

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

Chromosome 17:43755608 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010455

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 13378, 2010_April_001_213_SOST_605740_0004

This variant has 3 HGVS names - click the plus to show

17:g.43755608G>A
ENST00000301691.2:c.376C>T
ENSP00000301691.1:p.Arg126Ter

About this variant

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

Variant displays