Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs544993852

DYSF

rs544993852 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,871,127. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DYSFConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:71871127
Cytoband
2p13.2
HGVS
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)
Allele change
Synonymous_F1467F

Associated conditions / phenotypes

Miyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|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.