Variant (rsID / SNP)
rs2305777
rs2305777 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D1A. Location: chromosome 19, position 14,038,791. Clinical significance in the table: Benign.
Reference-table entries
CC2D1ABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:14038791
- Cytoband
- 19p13.12
- HGVS
- NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met)
- Allele change
- Missense_T801M
Associated conditions / phenotypes
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.