Variant (rsID / SNP)

rs148059981

rs148059981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYM. Location: chromosome 18, position 46,889,603. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

DYMLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:46889603
Cytoband: 18q21.1
HGVS: NM_001353214.3(DYM):c.422G>A (p.Ser141Asn)
Allele change: Missense_S141N

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.