Original source

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

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

Chromosome X:10449495 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM004770

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.10449495A>G
ENST00000380780.5:c.1877T>C
ENSP00000370157.1:p.Leu626Pro
ENST00000380779.5:c.1877T>C
ENSP00000370156.1:p.Leu626Pro
ENST00000380787.5:c.1877T>C
ENSP00000370164.1:p.Leu626Pro
ENST00000479925.1:n.827T>C
ENST00000453318.6:c.1877T>C
ENSP00000414521.2:p.Leu626Pro
ENST00000380782.6:c.*118T>C
ENST00000380785.5:c.1877T>C
ENSP00000370162.1:p.Leu626Pro
ENST00000317552.8:c.1877T>C
ENSP00000312678.4:p.Leu626Pro

About this variant

This variant overlaps 8 transcripts and is associated with 3 phenotypes.

Variant displays