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Variant (rsID / SNP)

rs200246467

DTNA

rs200246467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DTNA. Location: chromosome 18, position 32,455,225. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DTNAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:32455225
Cytoband
18q12.1
HGVS
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His)
Allele change
Missense_R505H

Associated conditions / phenotypes

Left ventricular noncompaction 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.