Variant (rsID / SNP)

rs121912608

rs121912608 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARL13B. Location: chromosome 3, position 93,755,507. Clinical significance in the table: Pathogenic.

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Reference-table entries

ARL13BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:93755507
Cytoband: 3q11.2
HGVS: NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)
Allele change: Missense_R200C

Associated conditions / phenotypes

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.