Variant (rsID / SNP)

rs41287054

rs41287054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHI1. Location: chromosome 6, position 135,716,008. Clinical significance in the table: Benign.

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Reference-table entries

AHI1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:135716008
Cytoband: 6q23.3
HGVS: NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=)
Allele change: Synonymous_S1005S

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.