Variant (rsID / SNP)

rs11558179

rs11558179 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,838,443. Clinical significance in the table: Benign.

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Reference-table entries

DYSFBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:71838443
Cytoband: 2p13.2
HGVS: NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)
Allele change: Synonymous_N1310N

Associated conditions / phenotypes

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

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.