Variant (rsID / SNP)
rs201502401
rs201502401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D2A. Location: chromosome 4, position 15,601,322. 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
- 4:15601322
- Cytoband
- 4p15.32
- HGVS
- NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
- Allele change
- Missense_D1556V
Associated conditions / phenotypes
Joubert syndrome 9|Meckel-Gruber syndrome|Joubert syndrome|Joubert syndrome|Meckel-Gruber syndrome|CC2D2A-Related Disorders|Inborn genetic diseases|COACH syndrome 1|Neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.