Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome X:147936534 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930253

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 8374

This variant has 22 HGVS names - click the plus to show

X:g.147936534T>A
ENST00000218200.12:c.911T>A
ENSP00000218200.8:p.Ile304Asn
ENST00000440235.6:c.911T>A
ENSP00000413764.3:p.Ile304Asn
ENST00000370475.8:c.911T>A
ENSP00000359506.4:p.Ile304Asn
ENST00000616614.4:c.*817T>A
ENST00000370471.7:c.911T>A
ENSP00000359502.3:p.Ile304Asn
ENST00000616382.4:c.911T>A
ENSP00000481058.1:p.Ile304Asn
ENST00000370470.5:c.911T>A
ENSP00000359501.1:p.Ile304Asn
ENST00000621453.4:c.911T>A
ENSP00000479528.1:p.Ile304Asn
ENST00000370477.5:c.911T>A
ENSP00000359508.1:p.Ile304Asn
ENST00000439526.6:c.905T>A
ENSP00000395923.2:p.Ile302Asn
ENST00000620828.4:n.1630T>A
ENST00000475038.2:c.*157T>A

About this variant

This variant overlaps 17 transcripts and is associated with 2 phenotypes.

Variant displays