Variant (rsID / SNP)
rs79644671
rs79644671 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,473,986. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
CEP290Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:88473986
- Cytoband
- 12q21.32
- HGVS
- NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)
- Allele change
- Synonymous_Q1733Q
Associated conditions / phenotypes
Senior-Loken syndrome 6|Joubert syndrome 5|Meckel syndrome, type 4|Leber congenital amaurosis 10|Bardet-Biedl syndrome 14|Joubert syndrome|Nephronophthisis|Meckel-Gruber syndrome|Leber congenital amaurosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.