Original source

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

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

Chromosome 7:44147678 (forward strand) | View in location tab


with HGMD-PUBLIC CM920307, CM930304

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 16 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays