Variant (rsID / SNP)
rs200335594
rs200335594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITPR1. Location: chromosome 3, position 4,712,410. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ITPR1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:4712410
- Cytoband
- 3p26.1
- HGVS
- NM_001378452.1(ITPR1):c.2007-3T>C
- Allele change
- Silent
Associated conditions / phenotypes
Autosomal dominant cerebellar ataxia|Intellectual disability|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.