Variant (rsID / SNP)

rs201834429

rs201834429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP41. Location: chromosome 7, position 130,040,551. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CEP41Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:130040551
Cytoband: 7q32.2
HGVS: NM_018718.3(CEP41):c.754G>A (p.Gly252Arg)
Allele change: Missense_G252R

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.