Variant (rsID / SNP)

rs145436538

rs145436538 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC21B. Location: chromosome 2, position 166,775,889. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TTC21BBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:166775889
Cytoband: 2q24.3
HGVS: NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys)
Allele change: Missense_S524C

Associated conditions / phenotypes

Jeune thoracic dystrophy|Nephronophthisis|Nephronophthisis 12|Asphyxiating thoracic dystrophy 4

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.