Variant (rsID / SNP)

rs71578975

rs71578975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEBL. Location: chromosome 10, position 21,178,841. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NEBLBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:21178841
Cytoband: 10p12.31
HGVS: NM_006393.3(NEBL):c.191A>G (p.Lys64Arg)
Allele change: Silent

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Cardiovascular phenotype

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.