Variant (rsID / SNP)

rs587777143

rs587777143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSPP1. Location: chromosome 8, position 68,074,049. Clinical significance in the table: Pathogenic.

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Reference-table entries

CSPP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 8:68074049
Cytoband: 8q13.2
HGVS: NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs)

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.