Variant (rsID / SNP)

rs185119682

rs185119682 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,766,291. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DYSFUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:71766291
Cytoband: 2p13.2
HGVS: NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)
Allele change: Missense_R468C

Associated conditions / phenotypes

Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B

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.