Variant (rsID / SNP)

rs375113643

rs375113643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSPP1. Location: chromosome 8, position 68,007,675. Clinical significance in the table: Pathogenic.

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Reference-table entries

CSPP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:68007675
Cytoband: 8q13.1
HGVS: NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)
Allele change: Nonsense_R220X

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.