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Variant (rsID / SNP)

rs376293526

DYSF

rs376293526 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,740,982. 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
2:71740982
Cytoband
2p13.2
HGVS
NM_001130987.2(DYSF):c.690C>T (p.Pro230=)
Allele change
Synonymous_P198P

Associated conditions / phenotypes

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

Public references

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