Variant (rsID / SNP)

rs78771765

rs78771765 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMPK, DM1-AS. Location: chromosome 19, position 46,275,054. Clinical significance in the table: Likely benign.

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Reference-table entries

DMPKLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:46275054
Cytoband: 19q13.32
HGVS: NM_004409.5(DMPK):c.1477C>T (p.Arg493Cys)
Allele change: Silent

Associated conditions / phenotypes

Myotonic dystrophy

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.