This variant has been flagged

Variation has more than 3 different alleles

Original source

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

G/A/C/T | Ancestral: G | Ambiguity code: N

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


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

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 69 HGVS names - Show

About this variant

This variant overlaps 33 transcripts and is associated with 4 phenotypes.

Variant displays