Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome X:67711453 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM962533

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

X:g.67711453C>A
ENST00000396043.2:c.341C>A
ENSP00000379358.2:p.Ala114Asp
ENST00000612452.4:c.1367C>A
ENSP00000484033.1:p.Ala456Asp
ENST00000396044.7:c.1937C>A
ENSP00000379359.3:p.Ala646Asp
ENST00000374690.7:c.1937C>A
ENSP00000363822.3:p.Ala646Asp

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays