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Variant (rsID / SNP)

rs143303575

CEP41

rs143303575 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP41. Location: chromosome 7, position 130,041,748. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CEP41Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:130041748
Cytoband
7q32.2
HGVS
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
Allele change
Missense_P206A

Associated conditions / phenotypes

Joubert syndrome 15|Familial Autism Spectrum Disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.