Original source

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

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

Chromosome 10:13283713 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM971175

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_072_PHYH_602026_0004, 10730

HGVS names

This variant has 9 HGVS names - Hide

10:g.13283713T>G
ENST00000396913.6:c.505A>C
ENSP00000380121.2:p.Asn169His
ENST00000453759.6:c.505A>C
ENSP00000412525.2:p.Asn169His
ENST00000396920.7:c.754A>C
ENSP00000380126.3:p.Asn252His
ENST00000263038.8:c.805A>C
ENSP00000263038.4:p.Asn269His

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays