Original source

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

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

Chromosome 7:44149794 (forward strand) | View in location tab


with HGMD-PUBLIC CM004359

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB GCK_645C_G_112910

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni5

About this variant

This variant overlaps 18 transcripts, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 4 citations.

Variant displays