Variant (rsID / SNP)

rs121908959

rs121908959 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,901,372. Clinical significance in the table: Pathogenic.

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Reference-table entries

DYSFPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:71901372
Cytoband: 2p13.2
HGVS: NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)
Allele change: Nonsense_R1891X

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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