Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM051027

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 3 HGVS names - click the plus to show

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 1 transcript, has 2506 sample genotypes and is associated with 3 phenotypes.

Variant displays