Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation 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 variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni5

Variation displays