Variant (rsID / SNP)

rs201391050

rs201391050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHI1. Location: chromosome 6, position 135,778,798. Clinical significance in the table: Pathogenic.

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Reference-table entries

AHI1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:135778798
Cytoband: 6q23.3
HGVS: NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)
Allele change: Nonsense_R329X

Associated conditions / phenotypes

Joubert syndrome 3|Retinal dystrophy|Joubert syndrome with ocular defect|Joubert syndrome

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.