Variant (rsID / SNP)
rs140108514
rs140108514 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,795,213. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
DYSFPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:71795213
- Cytoband
- 2p13.2
- HGVS
- NM_001130987.2(DYSF):c.2697+1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Autosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1|Qualitative or quantitative defects of dysferlin|Miyoshi muscular dystrophy 1|Autosomal recessive limb-girdle muscular dystrophy type 2B|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.