Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

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

Chromosome X:54456233 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002015

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

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

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

Variation displays