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:10482609 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM050290

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_246_MID1_300552_0007, 7590

This variant has 19 HGVS names - click the plus to show

X:g.10482609A>G
ENST00000616003.4:c.1037T>C
ENSP00000484712.1:p.Leu346Pro
ENST00000380780.5:c.884T>C
ENSP00000370157.1:p.Leu295Pro
ENST00000380779.5:c.884T>C
ENSP00000370156.1:p.Leu295Pro
ENST00000380787.5:c.884T>C
ENSP00000370164.1:p.Leu295Pro
ENST00000453318.6:c.884T>C
ENSP00000414521.2:p.Leu295Pro
ENST00000380785.5:c.884T>C
ENSP00000370162.1:p.Leu295Pro
ENST00000380782.6:c.884T>C
ENSP00000370159.1:p.Leu295Pro
ENST00000413894.5:c.884T>C
ENSP00000391154.1:p.Leu295Pro
ENST00000317552.8:c.884T>C
ENSP00000312678.4:p.Leu295Pro

About this variant

This variant overlaps 9 transcripts and is associated with 2 phenotypes.

Variant displays