Variant (rsID / SNP)
rs191239995
rs191239995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPLANE1. Location: chromosome 5, position 37,226,961. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CPLANE1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:37226961
- Cytoband
- 5p13.2
- HGVS
- NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val)
- Allele change
- Missense_A579V
Associated conditions / phenotypes
Joubert syndrome 17
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.