Variant (rsID / SNP)

rs11765434

rs11765434 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP41. Location: chromosome 7, position 130,051,037. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CEP41Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:130051037
Cytoband: 7q32.2
HGVS: NM_018718.3(CEP41):c.208-5A>G
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.