Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs141153181

CPLANE1

rs141153181 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPLANE1. Location: chromosome 5, position 37,198,877. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CPLANE1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:37198877
Cytoband
5p13.2
HGVS
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val)
Allele change
Missense_A1200V

Associated conditions / phenotypes

Joubert syndrome 17|Orofaciodigital syndrome type 6

Public references

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