Original source

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

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

Chromosome 1:7984930 (forward strand) | View in location tab


with HGMD-PUBLIC CM032395

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 15 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays