Variant (rsID / SNP)

rs143522987

rs143522987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHI1. Location: chromosome 6, position 135,786,977. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AHI1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:135786977
Cytoband: 6q23.3
HGVS: NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser)
Allele change: Missense_P242S

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.