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Variant (rsID / SNP)

rs150355624

DYSF

rs150355624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,801,366. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DYSFConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:71801366
Cytoband
2p13.2
HGVS
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=)
Allele change
Synonymous_Y1057Y

Associated conditions / phenotypes

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.