Variant (rsID / SNP)
rs139974543
rs139974543 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1L. Location: chromosome 16, position 53,653,005. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
RPGRIP1LBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:53653005
- Cytoband
- 16q12.2
- HGVS
- NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
- Allele change
- Missense_A1103G
Associated conditions / phenotypes
Joubert syndrome|Meckel-Gruber syndrome|Meckel syndrome, type 5|Joubert syndrome 7|Nephronophthisis 8|Joubert syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.