Variant (rsID / SNP)

rs148759919

rs148759919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DAG1. Location: chromosome 3, position 49,568,966. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DAG1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:49568966
Cytoband: 3p21.31
HGVS: NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile)
Allele change: Missense_T341I

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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