Variant (rsID / SNP)
rs187003641
rs187003641 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D2A. Location: chromosome 4, position 15,559,105. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CC2D2AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:15559105
- Cytoband
- 4p15.32
- HGVS
- NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
- Allele change
- Missense_R935Q
Associated conditions / phenotypes
Meckel-Gruber syndrome|COACH syndrome 1|Joubert syndrome 9|Meckel syndrome, type 6|Joubert syndrome|Meckel-Gruber syndrome|Meckel syndrome, type 6|Joubert syndrome 9
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.