Variant (rsID / SNP)

rs75601897

rs75601897 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D1A. Location: chromosome 19, position 14,031,728. Clinical significance in the table: Benign.

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Reference-table entries

CC2D1ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:14031728
Cytoband: 19p13.12
HGVS: NM_017721.5(CC2D1A):c.1634T>C (p.Ile545Thr)
Allele change: Missense_I545T

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.