Variant (rsID / SNP)

rs138656848

rs138656848 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC21B. Location: chromosome 2, position 166,730,418. Clinical significance in the table: Likely benign.

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Reference-table entries

TTC21BLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:166730418
Cytoband: 2q24.3
HGVS: NM_024753.5(TTC21B):c.*847A>C
Allele change: Silent

Associated conditions / phenotypes

Asphyxiating thoracic dystrophy 4|Nephronophthisis 12

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.