Variant (rsID / SNP)

rs183936286

rs183936286 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHI1. Location: chromosome 6, position 135,787,048. 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: 6:135787048
Cytoband: 6q23.3
HGVS: NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)
Allele change: Missense_Y218C

Associated conditions / phenotypes

Joubert syndrome|Joubert syndrome 3

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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