Variant (rsID / SNP)

rs11687223

rs11687223 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,747,432. Clinical significance in the table: Benign.

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Reference-table entries

DYSFBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:71747432
Cytoband: 2p13.2
HGVS: NM_001130987.2(DYSF):c.1033+94G>T
Allele change: Silent

Associated conditions / phenotypes

Miyoshi muscular dystrophy 1

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.