Variant (rsID / SNP)

rs372659908

rs372659908 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHI1. Location: chromosome 6, position 135,754,219. 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: 6:135754219
Cytoband: 6q23.3
HGVS: NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)
Allele change: Nonsense_R738X

Associated conditions / phenotypes

Joubert syndrome 3|Retinitis pigmentosa|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.