Variant (rsID / SNP)

rs121912607

rs121912607 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARL13B. Location: chromosome 3, position 93,722,618. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ARL13BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:93722618
Cytoband: 3q11.2
HGVS: NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter)
Allele change: Nonsense_W82X

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.