Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM004770

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 15 HGVS names - click the plus to show

X:g.10449495A>G
ENST00000380780.4:c.1877T>C
ENSP00000370157.1:p.Leu626Pro
ENST00000380787.4:c.1877T>C
ENSP00000370164.1:p.Leu626Pro
ENST00000380779.4:c.1877T>C
ENSP00000370156.1:p.Leu626Pro
ENST00000479925.1:n.827T>C
ENST00000453318.5:c.1877T>C
ENSP00000414521.2:p.Leu626Pro
ENST00000380785.4:c.1877T>C
ENSP00000370162.1:p.Leu626Pro
ENST00000380782.5:c.*118T>C
ENST00000317552.7:c.1877T>C
ENSP00000312678.4:p.Leu626Pro

About this variant

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

Variation displays