Variant (rsID / SNP)

rs554931078

rs554931078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INPP5E. Location: chromosome 9, position 139,333,902. Clinical significance in the table: Likely benign.

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Reference-table entries

INPP5ELikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:139333902
Cytoband: 9q34.3
HGVS: NM_019892.6(INPP5E):c.-31G>C
Allele change: Silent

Associated conditions / phenotypes

Joubert syndrome 1

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.