Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S
Location

Chromosome X:46853826 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CD982927, CM981713

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 7847, 2010_April_001_318_RP2_312600_0004

HGVS names

This variant has 3 HGVS names - Hide

X:g.46853826C>G
ENST00000218340.3:c.453C>G
ENSP00000218340.3:p.Tyr151Ter

About this variant

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

Variant displays