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Variant (rsID / SNP)

rs143763229

DAG1

rs143763229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DAG1. Location: chromosome 3, position 49,569,252. 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
3:49569252
Cytoband
3p21.31
HGVS
NM_004393.6(DAG1):c.1308G>A (p.Thr436=)
Allele change
Synonymous_T436T

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.