Variant (rsID / SNP)

rs141476432

rs141476432 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,891,452. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DYSFBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:71891452
Cytoband: 2p13.2
HGVS: NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=)
Allele change: Synonymous_L1633L

Associated conditions / phenotypes

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.