Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome X:46853731 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM991106

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 7851, 2010_April_001_320_RP2_312600_0008

HGVS names

This variant has 3 HGVS names - Hide

X:g.46853731C>T
ENST00000218340.3:c.358C>T
ENSP00000218340.3:p.Arg120Ter

About this variant

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

Variant displays