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


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

Most severe consequence
Clinical significance

This variation has 3 synonyms - click the plus to show

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

Variation displays