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Variant (rsID / SNP)

rs145403829

DAG1

rs145403829 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DAG1. Location: chromosome 3, position 49,548,225. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DAG1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:49548225
Cytoband
3p21.31
HGVS
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)
Allele change
Missense_L86F

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9|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.