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Variant (rsID / SNP)

rs142009291

DTNA

rs142009291 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DTNA. Location: chromosome 18, position 32,459,629. 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
18:32459629
Cytoband
18q12.1
HGVS
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln)
Allele change
Missense_R619Q

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.