Variant (rsID / SNP)

rs61740117

rs61740117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D1A. Location: chromosome 19, position 14,024,269. 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: 19:14024269
Cytoband: 19p13.12
HGVS: NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val)
Allele change: Missense_A189V

Associated conditions / phenotypes

History of neurodevelopmental disorder

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.