Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 8:96145173 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM0910798

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9957

HGVS names

This variant has 6 HGVS names - Hide

8:g.96145173T>A
ENST00000287020.6:c.758A>T
ENSP00000287020.4:p.Gln253Leu
ENST00000620978.1:c.707-11A>T
ENST00000621429.1:c.758A>T
ENSP00000483711.1:p.Gln253Leu

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays