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Variant (rsID / SNP)

rs863225147

AHI1

rs863225147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHI1. Location: chromosome 6, position 135,759,552. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

AHI1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
6:135759552
Cytoband
6q23.3
HGVS
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)
Allele change
Missense_D666V

Associated conditions / phenotypes

Joubert syndrome 3|Joubert syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.