Variant (rsID / SNP)

rs202044973

rs202044973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,762,412. 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: 2:71762412
Cytoband: 2p13.2
HGVS: NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)
Allele change: Synonymous_C456C

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2B|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.