Original source

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

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

Chromosome 2:71517028 (forward strand) | View in location tab


with HGMD-PUBLIC CM055148, CM081230 ; PhenCode DYSF:c.895G>A (G/A), DYSF:c.895G>C (G/C), DYSF:c.895G>T (G/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

About this variant

This variant overlaps 22 transcripts and is associated with 4 phenotypes.

Variant displays