Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

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


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

Most severe consequence
Evidence status

Clinical significance


LSDB 11597

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

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

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

Variation displays