Variant (rsID / SNP)

rs267606719

rs267606719 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,471,004. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CEP290Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:88471004
Cytoband: 12q21.32
HGVS: NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)
Allele change: Nonsense_E1902X

Associated conditions / phenotypes

Bardet-Biedl syndrome 14|Joubert syndrome 5|Meckel syndrome, type 6

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.