Original source

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

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

Chromosome X:43591031 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930488

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 8379

This variation has 5 HGVS names - click the plus to show

X:g.43591031C>T
ENST00000542639.1:c.487C>T
ENSP00000440846.1:p.Gln163Ter
ENST00000338702.3:c.886C>T
ENSP00000340684.3:p.Gln296Ter

Variation displays