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Variant (rsID / SNP)

rs147483765

DYSF

rs147483765 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,801,442. 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
2:71801442
Cytoband
2p13.2
HGVS
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys)
Allele change
Missense_R1083C

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.