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Variant (rsID / SNP)

rs146275785

NEBL

rs146275785 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEBL. Location: chromosome 10, position 21,117,460. 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
10:21117460
Cytoband
10p12.31
HGVS
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)
Allele change
Silent

Associated conditions / phenotypes

Cardiovascular phenotype|Primary dilated cardiomyopathy

Public references

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