Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/A/T | Ancestral: G | Ambiguity code: D
Location

Chromosome 2:71553131 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM078431 ; PhenCode DYSF:c.1873G>T (G/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11597

This variant has 46 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 22 transcripts and is associated with 2 phenotypes.

Variant displays