Original source

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

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

Chromosome X:2934870 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM030777

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 7 HGVS names - Hide

X:g.2934870G>A
ENST00000545496.5:c.1807C>T
ENSP00000441417.1:p.Pro603Ser
ENST00000540563.5:c.1597C>T
ENSP00000438198.1:p.Pro533Ser
ENST00000381134.7:c.1732C>T
ENSP00000370526.3:p.Pro578Ser

About this variant

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

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