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Variant (rsID / SNP)

rs41290704

DAG1

rs41290704 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DAG1. Location: chromosome 3, position 49,568,543. 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
3:49568543
Cytoband
3p21.31
HGVS
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser)
Allele change
Missense_T200S

Associated conditions / phenotypes

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

Public references

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