Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R|MAF: < 0.01 (G)
Location

Chromosome 8:96145065 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM082789

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9954, NM_001001557.1:c.866T>C

HGVS names

This variant has 6 HGVS names - Hide

8:g.96145065A>G
ENST00000287020.6:c.866T>C
ENSP00000287020.4:p.Leu289Pro
ENST00000620978.1:c.793+11T>C
ENST00000621429.1:c.866T>C
ENSP00000483711.1:p.Leu289Pro

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays