Variant (rsID / SNP)

rs368178632

rs368178632 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP41. Location: chromosome 7, position 130,056,798. 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: 7:130056798
Cytoband: 7q32.2
HGVS: NM_018718.3(CEP41):c.107T>C (p.Met36Thr)
Allele change: Missense_M36T

Associated conditions / phenotypes

Joubert syndrome 9/15, digenic|Joubert syndrome 15|Familial Autism Spectrum Disorder

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.