Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.03 (A)

Chromosome 16:3244246 (forward strand) | View in location tab


with HGMD-PUBLIC CS035577

Most severe consequence
Splice region variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 20 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni5

About this variant

This variant overlaps 16 transcripts, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays