Original source

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

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

Chromosome X:67722899 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920092

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 8525

This variant has 8 HGVS names - click the plus to show

X:g.67722899G>A
ENST00000396043.2:c.926G>A
ENSP00000379358.2:p.Arg309His
ENST00000612452.4:c.1973G>A
ENSP00000484033.1:p.Arg658His
ENST00000396044.7:c.2174-787G>A
ENST00000374690.7:c.2522G>A
ENSP00000363822.3:p.Arg841His

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 4 transcripts, has 159 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays