Variant (rsID / SNP)

rs587777141

rs587777141 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSPP1, ARFGEF1. Location: chromosome 8, position 68,102,891. Clinical significance in the table: Pathogenic.

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Reference-table entries

CSPP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 8:68102891
Cytoband: 8q13.2
HGVS: NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter)

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.