Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome X:47206103 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CS080748

Most severe consequence
 
Synonymous variant
Evidence status

Clinical significance

Synonyms

LSDB 8582, NM_003334.3:c.1731C>T

HGVS names

This variant has 6 HGVS names - Hide

X:g.47206103C>T
ENST00000335972.10:c.1731C>T
ENST00000335972.10:c.1731C>T(p.=)
ENST00000377351.8:c.1731C>T
ENST00000377351.8:c.1731C>T(p.=)
ENST00000490869.1:n.490C>T

About this variant

This variant overlaps 7 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays