Variant (rsID / SNP)

rs143147192

rs143147192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPLANE1. Location: chromosome 5, position 37,169,169. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CPLANE1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:37169169
Cytoband: 5p13.2
HGVS: NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=)
Allele change: Synonymous_Q2319Q

Associated conditions / phenotypes

Joubert syndrome 17|Orofaciodigital syndrome type 6|Joubert syndrome 17

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.