Variant (rsID / SNP)
rs140511594
rs140511594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC21B. Location: chromosome 2, position 166,797,621. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TTC21BPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:166797621
- Cytoband
- 2q24.3
- HGVS
- NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
- Allele change
- Missense_P209L
Associated conditions / phenotypes
Nephronophthisis 12|Jeune thoracic dystrophy|Nephronophthisis|Asphyxiating thoracic dystrophy 4|Nephronophthisis 12|Finnish congenital nephrotic syndrome|Infantile nephronophthisis|Renal dysplasia and retinal aplasia|Retinal dystrophy|Nephrotic syndrome|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.