Variant (rsID / SNP)
rs137982921
rs137982921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1L. Location: chromosome 16, position 53,698,869. Clinical significance in the table: Uncertain significance.
Reference-table entries
RPGRIP1LUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:53698869
- Cytoband
- 16q12.2
- HGVS
- NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
- Allele change
- Missense_K386E
Associated conditions / phenotypes
Nephronophthisis 8|Meckel syndrome, type 5|Joubert syndrome 7|Joubert syndrome|Meckel-Gruber syndrome|COACH syndrome 1|Joubert syndrome 7|Meckel syndrome, type 5|Joubert syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.