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Variant (rsID / SNP)

rs780384504

NEBL

rs780384504 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEBL. Location: chromosome 10, position 21,178,827. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NEBLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:21178827
Cytoband
10p12.31
HGVS
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala)
Allele change
Silent

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Cardiovascular phenotype

Public references

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