Variant (rsID / SNP)

rs140768365

rs140768365 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DTNA. Location: chromosome 18, position 32,374,168. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DTNAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:32374168
Cytoband: 18q12.1
HGVS: NM_001386795.1(DTNA):c.316C>G (p.Gln106Glu)
Allele change: Missense_Q106E

Associated conditions / phenotypes

Left ventricular noncompaction 1|See cases

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.