Variant (rsID / SNP)

rs16851307

rs16851307 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC21B. Location: chromosome 2, position 166,781,188. Clinical significance in the table: Benign.

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Reference-table entries

TTC21BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:166781188
Cytoband: 2q24.3
HGVS: NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser)
Allele change: Missense_P463S

Associated conditions / phenotypes

Nephronophthisis 12|Asphyxiating thoracic dystrophy 4|Jeune thoracic dystrophy|Nephronophthisis|Connective tissue disorder

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.