Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome X:43731784 (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.43731784C>T
ENST00000338702.3:c.886C>T
ENSP00000340684.3:p.Gln296Ter
ENST00000542639.4:c.487C>T
ENSP00000440846.1:p.Gln163Ter

About this variant

This variant overlaps 3 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variation displays