Variant (rsID / SNP)

rs782460743

rs782460743 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP41. Location: chromosome 7, position 130,040,067. 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: 7:130040067
Cytoband: 7q32.2
HGVS: NM_018718.3(CEP41):c.786G>A (p.Pro262=)
Allele change: Synonymous_P262P

Associated conditions / phenotypes

Joubert syndrome|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.