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Variant (rsID / SNP)

rs144953114

RAD21

rs144953114 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD21. Location: chromosome 8, position 117,864,305. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RAD21Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:117864305
Cytoband
8q24.11
HGVS
NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg)
Allele change
Missense_L451R

Associated conditions / phenotypes

History of neurodevelopmental disorder|Mungan syndrome|Cornelia de Lange syndrome 4|Cornelia de Lange syndrome 4

Public references

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