Variant (rsID / SNP)

rs139872140

rs139872140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DTNA. Location: chromosome 18, position 32,418,752. 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: 18:32418752
Cytoband: 18q12.1
HGVS: NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
Allele change: Silent

Associated conditions / phenotypes

Left ventricular noncompaction 1

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.