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Variant (rsID / SNP)

rs191830054

CC2D1A

rs191830054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D1A. Location: chromosome 19, position 14,030,642. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CC2D1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:14030642
Cytoband
19p13.12
HGVS
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)
Allele change
Missense_I412V

Associated conditions / phenotypes

Intellectual disability, autosomal recessive 3|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.