Original source

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

Alleles
A/C/T|Ancestral: A|Ambiguity code: H|MAF: < 0.01 (C)
Location

Chromosome 8:86628994 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM051027

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Hide

Variant allele T
8:g.86628994A>T
ENST00000320005.5:c.1405T>A
ENSP00000316605.5:p.Tyr469Asn

Variant allele C
8:g.86628994A>C
ENST00000320005.5:c.1405T>G
ENSP00000316605.5:p.Tyr469Asp

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 2 transcripts, has 2545 sample genotypes and is associated with 3 phenotypes.

Variant displays