Variant (rsID / SNP)

rs16933182

rs16933182 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSPP1. Location: chromosome 8, position 68,074,137. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CSPP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:68074137
Cytoband: 8q13.2
HGVS: NM_001382391.1(CSPP1):c.2630G>A (p.Arg877His)
Allele change: Missense_R872H

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.