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Variant (rsID / SNP)

rs201148693

AHI1

rs201148693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHI1. Location: chromosome 6, position 135,639,665. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AHI1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:135639665
Cytoband
6q23.3
HGVS
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)
Allele change
Missense_P1140S

Associated conditions / phenotypes

Joubert syndrome|Joubert syndrome 3|Intellectual disability

Public references

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