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Variant (rsID / SNP)

rs398123787

DYSF

rs398123787 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,839,856. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DYSFPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:71839856
Cytoband
2p13.2
HGVS
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)
Allele change
Missense_G1404D

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.