Original source

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

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

Chromosome 2:71602794 (forward strand) | View in location tab


with HGMD-PUBLIC CM980575 ; PhenCode DYSF:c.3892A>G (A/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 27 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 17 transcripts, has 2504 sample genotypes and is associated with 6 phenotypes.

Variant displays