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Variant (rsID / SNP)

rs116717961

DAG1

rs116717961 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DAG1. Location: chromosome 3, position 49,548,226. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DAG1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
3:49548226
Cytoband
3p21.31
HGVS
NM_004393.6(DAG1):c.259A>G (p.Ile87Val)
Allele change
Missense_I87V

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2P|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Public references

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