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Variant (rsID / SNP)

rs35721373

DYSF

rs35721373 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,780,248. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DYSFBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:71780248
Cytoband
2p13.2
HGVS
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)
Allele change
Synonymous_Y606Y

Associated conditions / phenotypes

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