Variant (rsID / SNP)

rs113904914

rs113904914 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DAG1. Location: chromosome 3, position 49,569,980. Clinical significance in the table: Likely benign.

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Reference-table entries

DAG1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:49569980
Cytoband: 3p21.31
HGVS: NM_004393.6(DAG1):c.2036G>A (p.Arg679His)
Allele change: Missense_R679H

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.