Variant (rsID / SNP)

rs527221

rs527221 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMPK. Location: chromosome 19, position 46,275,976. Clinical significance in the table: Benign.

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Reference-table entries

DMPKBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:46275976
Cytoband: 19q13.32
HGVS: NM_004409.5(DMPK):c.1267C>G (p.Leu423Val)
Allele change: Missense_L449V

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.