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Variant (rsID / SNP)

rs121908954

DYSF

rs121908954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,829,924. 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
2:71829924
Cytoband
2p13.2
HGVS
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
Allele change
Missense_I1284V

Associated conditions / phenotypes

Miyoshi muscular dystrophy 1|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|DYSF-Related Disorders|Distal myopathy with anterior tibial onset

Public references

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