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Variant (rsID / SNP)

rs182185801

DYSF

rs182185801 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,871,175. 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
2:71871175
Cytoband
2p13.2
HGVS
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)
Allele change
Missense_K1483N

Associated conditions / phenotypes

Miyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.