Variant (rsID / SNP)
rs10870182
rs10870182 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INPP5E. Location: chromosome 9, position 139,324,740. Clinical significance in the table: Benign.
Reference-table entries
INPP5EBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:139324740
- Cytoband
- 9q34.3
- HGVS
- NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)
- Allele change
- Synonymous_P596P
Associated conditions / phenotypes
Joubert syndrome|Joubert syndrome 1|MORM syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.