Variant (rsID / SNP)

rs121918129

rs121918129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INPP5E. Location: chromosome 9, position 139,327,014. Clinical significance in the table: Pathogenic.

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Reference-table entries

INPP5EPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:139327014
Cytoband: 9q34.3
HGVS: NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)
Allele change: Missense_R434Q

Associated conditions / phenotypes

Joubert syndrome 1|Joubert syndrome|Retinal dystrophy

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.