Variant (rsID / SNP)
rs7970228
rs7970228 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,500,552. Clinical significance in the table: Benign.
Reference-table entries
CEP290Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:88500552
- Cytoband
- 12q21.32
- HGVS
- NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)
- Allele change
- Missense_L906W
Associated conditions / phenotypes
Meckel syndrome, type 4|Joubert syndrome 5|Leber congenital amaurosis 10|Bardet-Biedl syndrome 14|Senior-Loken syndrome 6|Joubert syndrome|Meckel-Gruber syndrome|Nephronophthisis|Leber congenital amaurosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.