Original source

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

Alleles
G/C/T | Ancestral: G | Ambiguity code: B
Location

Chromosome X:101356112 (forward strand) | View in location tab

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 7043

This variant has 24 HGVS names - click the plus to show

Variant allele T
X:g.101356112G>T
ENST00000618050.4:c.1506C>A
ENSP00000479125.1:p.Cys502Ter
ENST00000478995.1:n.178C>A
ENST00000372880.5:c.1039-1418C>A
ENST00000308731.7:c.1506C>A
ENSP00000308176.7:p.Cys502Ter
ENST00000621635.4:c.1608C>A
ENSP00000483570.1:p.Cys536Ter
LRG_128:g.35113C>A
LRG_128t1:c.1506C>A
LRG_128p1:p.Cys502Ter

Variant allele C
X:g.101356112G>C
ENST00000618050.4:c.1506C>G
ENSP00000479125.1:p.Cys502Trp
ENST00000478995.1:n.178C>G
ENST00000372880.5:c.1039-1418C>G
ENST00000308731.7:c.1506C>G
ENSP00000308176.7:p.Cys502Trp
ENST00000621635.4:c.1608C>G
ENSP00000483570.1:p.Cys536Trp
LRG_128:g.35113C>G
LRG_128t1:c.1506C>G
LRG_128p1:p.Cys502Trp

About this variant

This variant overlaps 18 transcripts, has 2 sample genotypes and is associated with 1 phenotype.

Variant displays