Variant (rsID / SNP)
rs781252161
rs781252161 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D2A. Location: chromosome 4, position 15,534,907. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
CC2D2APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:15534907
- Cytoband
- 4p15.32
- HGVS
- NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
- Allele change
- Nonsense_R520X
Associated conditions / phenotypes
Joubert syndrome 9|Joubert syndrome|Meckel-Gruber syndrome|Meckel syndrome, type 6|COACH syndrome 1|Joubert syndrome 9|Meckel syndrome, type 6|COACH syndrome 2|Joubert syndrome 9
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.