Variant (rsID / SNP)

rs41281892

rs41281892 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBCK1. Location: chromosome 20, position 390,646. Clinical significance in the table: Benign.

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Reference-table entries

RBCK1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:390646
Cytoband: 20p13
HGVS: NM_031229.4(RBCK1):c.144G>A (p.Glu48=)
Allele change: Synonymous_E48E

Associated conditions / phenotypes

Polyglucosan body myopathy type 1

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.