Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S
Location

Chromosome X:154765478 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM980560

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 15 HGVS names - Hide

X:g.154765478C>G
ENST00000437719.5:c.75C>G
ENSP00000395693.1:p.Pro26Arg
ENST00000473552.1:n.172C>G
ENST00000620277.4:c.119C>G
ENSP00000478387.1:p.Pro40Arg
ENST00000369550.9:c.119C>G
ENSP00000358563.5:p.Pro40Arg
ENST00000452771.5:c.77C>G
ENSP00000407325.1:p.Pro26Arg
ENST00000413910.5:c.119C>G
ENSP00000400542.1:p.Pro40Arg
LRG_55:g.7723C>G
LRG_55t1:c.119C>G
LRG_55p1:p.Pro40Arg

About this variant

This variant overlaps 14 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays