Variant (rsID / SNP)

rs886044058

rs886044058 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSPP1. Location: chromosome 8, position 68,024,266. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CSPP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:68024266
Cytoband: 8q13.2
HGVS: NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter)
Allele change: Nonsense_E394X

Associated conditions / phenotypes

Joubert syndrome 21

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.