Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K
Location

Chromosome X:47205989 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1231515 ; HGMD-PUBLIC CM080584

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 8580, NM_003334.3:c.1617G>T

HGVS names

This variant has 6 HGVS names - Hide

X:g.47205989G>T
ENST00000335972.10:c.1617G>T
ENSP00000338413.6:p.Met539Ile
ENST00000377351.8:c.1617G>T
ENSP00000366568.4:p.Met539Ile
ENST00000490869.1:n.465-89G>T

About this variant

This variant overlaps 7 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays