Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome X:101358330 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM940192 ; PhenCode BTKbase_U78027.1:g.63145A>G (T/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 12 HGVS names - Hide

X:g.101358330T>C
ENST00000618050.4:c.1082A>G
ENSP00000479125.1:p.Tyr361Cys
ENST00000470329.1:n.32A>G
ENST00000372880.5:c.1038+44A>G
ENST00000621635.4:c.1184A>G
ENSP00000483570.1:p.Tyr395Cys
ENST00000308731.7:c.1082A>G
ENSP00000308176.7:p.Tyr361Cys
LRG_128:g.32895A>G
LRG_128t1:c.1082A>G
LRG_128p1:p.Tyr361Cys

About this variant

This variant overlaps 10 transcripts and is associated with 3 phenotypes.

Variant displays