Original source

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

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

Chromosome 8:89971247 (forward strand) | View in location tab


with HGMD-PUBLIC CM066928

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays