Variant (rsID / SNP)

rs560856407

rs560856407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,791,199. 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: 2:71791199
Cytoband: 2p13.2
HGVS: NM_001130987.2(DYSF):c.2421C>T (p.Ser807=)
Allele change: Synonymous_S775S

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.