Variant (rsID / SNP)

rs75854087

rs75854087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYM. Location: chromosome 18, position 46,860,218. Clinical significance in the table: Benign.

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Reference-table entries

DYMBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:46860218
Cytoband: 18q21.1
HGVS: NM_001353214.3(DYM):c.500T>A (p.Ile167Asn)
Allele change: Missense_I167N

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.