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Variant (rsID / SNP)

rs202057391

CC2D1A

rs202057391 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D1A. Location: chromosome 19, position 14,034,243. 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
19:14034243
Cytoband
19p13.12
HGVS
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)
Allele change
Missense_T580I

Associated conditions / phenotypes

Smith-Magenis Syndrome-like|History of neurodevelopmental disorder|Intellectual disability, autosomal recessive 3

Public references

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