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Variant (rsID / SNP)

rs121434351

AHI1

rs121434351 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHI1. Location: chromosome 6, position 135,754,263. 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
6:135754263
Cytoband
6q23.3
HGVS
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
Allele change
Missense_R723Q

Associated conditions / phenotypes

Joubert syndrome 3|Joubert syndrome|Joubert syndrome with ocular defect

Public references

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