Variant (rsID / SNP)

rs11554412

rs11554412 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARL13B. Location: chromosome 3, position 93,769,712. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ARL13BBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:93769712
Cytoband: 3q11.2
HGVS: NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala)
Allele change: Missense_P396A

Associated conditions / phenotypes

Joubert syndrome 1|Joubert syndrome 8

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.