Variant (rsID / SNP)

rs17133175

rs17133175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP41. Location: chromosome 7, position 130,036,801. Clinical significance in the table: Benign.

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Reference-table entries

CEP41Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:130036801
Cytoband: 7q32.2
HGVS: NM_018718.3(CEP41):c.*1931C>T
Allele change: Silent

Associated conditions / phenotypes

Joubert syndrome 15

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.