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Variant (rsID / SNP)

rs199683318

CC2D1A

rs199683318 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D1A. Location: chromosome 19, position 14,038,819. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CC2D1ABenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
19:14038819
Cytoband
19p13.12
HGVS
NM_017721.5(CC2D1A):c.2430C>G (p.Asp810Glu)
Allele change
Missense_D810E

Associated conditions / phenotypes

History of neurodevelopmental disorder

Public references

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