Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K|MAF: < 0.01 (T)
Location

Chromosome 8:96145185 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM082790

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9953

HGVS names

This variant has 6 HGVS names - Hide

8:g.96145185G>T
ENST00000287020.6:c.746C>A
ENSP00000287020.4:p.Ala249Glu
ENST00000620978.1:c.707-23C>A
ENST00000621429.1:c.746C>A
ENSP00000483711.1:p.Ala249Glu

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays