Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs758180890

DYSF

rs758180890 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,753,425. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DYSFPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:71753425
Cytoband
2p13.2
HGVS
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)
Allele change
Nonsense_R377X

Associated conditions / phenotypes

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

Public references

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