Variant (rsID / SNP)
rs77106136
rs77106136 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC21B. Location: chromosome 2, position 166,773,796. Clinical significance in the table: Benign.
Reference-table entries
TTC21BBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:166773796
- Cytoband
- 2q24.3
- HGVS
- NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val)
- Allele change
- Missense_I624V
Associated conditions / phenotypes
Asphyxiating thoracic dystrophy 4|Nephronophthisis 12|Jeune thoracic dystrophy|Nephronophthisis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.