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Variant (rsID / SNP)

rs878853160

CDK13

rs878853160 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDK13. Location: chromosome 7, position 40,085,606. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CDK13Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
7:40085606
Cytoband
7p14.1
HGVS
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
Allele change
Missense_N842S

Associated conditions / phenotypes

Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder|Inborn genetic diseases|Marfanoid habitus and intellectual disability|Global developmental delay

Public references

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