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:54456233 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM002015

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 3 HGVS names - Hide

X:g.54456233C>T
ENST00000375135.3:c.1829G>A
ENSP00000364277.3:p.Arg610Gln

About this variant

This variant overlaps 1 transcript and is associated with 3 phenotypes.

Variant displays