Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome X:111401322 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM980526, CM980525

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6806, 2010_April_001_063_DCX_300121_0003

This variation has 12 HGVS names - click the plus to show

X:g.111401322A>G
ENST00000371993.5:c.373T>C
ENSP00000361061.2:p.Tyr125His
ENST00000496551.1:n.613T>C
ENST00000356220.6:c.373T>C
ENSP00000348553.3:p.Tyr125His
ENST00000338081.6:c.616T>C
ENSP00000337697.3:p.Tyr206His
ENST00000358070.7:c.591T>C
ENSP00000350776.4:p.Tyr198His
ENST00000488120.1:c.373T>C
ENSP00000419861.1:p.Tyr125His

About this variant

This variant overlaps 6 transcripts and is associated with 3 phenotypes.

Variation displays