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:2934859 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM980124

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_000047.2:c.1743G>A, 6886

This variant has 7 HGVS names - click the plus to show

X:g.2934859C>T
ENST00000545496.5:c.1818G>A
ENSP00000441417.1:p.Trp606Ter
ENST00000540563.5:c.1608G>A
ENSP00000438198.1:p.Trp536Ter
ENST00000381134.7:c.1743G>A
ENSP00000370526.3:p.Trp581Ter

About this variant

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

Variant displays