Original source

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

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

Chromosome 16:47650919 (forward strand) | View in location tab


with HGMD-PUBLIC CM971174, CM031327

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 16 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, has 2534 sample genotypes and is associated with 2 phenotypes.

Variant displays