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Variant (rsID / SNP)

rs199955501

DYSF

rs199955501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,748,034. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DYSFConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:71748034
Cytoband
2p13.2
HGVS
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
Allele change
Synonymous_P351P

Associated conditions / phenotypes

Limb-Girdle Muscular Dystrophy, Recessive|Miyoshi myopathy|Autosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin|Miyoshi muscular dystrophy 1

Public references

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