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Variant (rsID / SNP)

rs117209107

DAG1

rs117209107 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DAG1. Location: chromosome 3, position 49,568,275. Clinical significance in the table: Benign.

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Reference-table entries

DAG1Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
3:49568275
Cytoband
3p21.31
HGVS
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)
Allele change
Missense_D111N

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2P|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.