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Variant (rsID / SNP)

rs587784006

NIPBL

rs587784006 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIPBL. Location: chromosome 5, position 37,044,810. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NIPBLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:37044810
Cytoband
5p13.2
HGVS
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr)
Allele change
Missense_A2108T

Associated conditions / phenotypes

Cornelia de Lange syndrome 1

Public references

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