Variant (rsID / SNP)

rs34211915

rs34211915 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,797,762. 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: 2:71797762
Cytoband: 2p13.2
HGVS: NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)
Allele change: Missense_R1008Q

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.