This variant has been flagged

None of the variant alleles match the reference allele (G)

Original source

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

Alleles
C/T|Ancestral: G|Ambiguity code: Y
Note: The reference base for this variant (C) does not match the Ensembl reference base (G) at this location.
Location

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

Co-located variant

HGMD-PUBLIC CM920092

Most severe consequence
 
Missense variant
Evidence status

Synonyms

LSDB 8525

HGVS names

This variant has 15 HGVS names - Hide

Variant allele T
X:g.67722899G>T
ENST00000396043.2:c.926G>T
ENSP00000379358.2:p.Arg309Leu
ENST00000612452.4:c.1973G>T
ENSP00000484033.1:p.Arg658Leu
ENST00000396044.7:c.2174-787G>T
ENST00000374690.7:c.2522G>T
ENSP00000363822.3:p.Arg841Leu

Variant allele C
ENST00000396043.2:c.926G>C
ENSP00000379358.2:p.Arg309Pro
ENST00000612452.4:c.1973G>C
ENSP00000484033.1:p.Arg658Pro
ENST00000396044.7:c.2174-787G>C
ENST00000374690.7:c.2522G>C
ENSP00000363822.3:p.Arg841Pro

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 8 transcripts, has 159 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays