Variant (rsID / SNP)

rs876657679

rs876657679 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D1A. Location: chromosome 19, position 14,024,452. Clinical significance in the table: Pathogenic.

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Reference-table entries

CC2D1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:14024452
Cytoband: 19p13.12
HGVS: NM_017721.5(CC2D1A):c.748+1G>T
Allele change: Silent

Associated conditions / phenotypes

Intellectual disability, autosomal recessive 3|Intellectual disability

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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