Variant (rsID / SNP)
rs13312995
rs13312995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHI1. Location: chromosome 6, position 135,751,024. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
AHI1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:135751024
- Cytoband
- 6q23.3
- HGVS
- NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)
- Allele change
- Missense_R830W
Associated conditions / phenotypes
Joubert syndrome|Joubert syndrome 1|Joubert syndrome 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.