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Variant (rsID / SNP)

rs139441507

TTC21B

rs139441507 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC21B. Location: chromosome 2, position 166,773,820. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TTC21BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:166773820
Cytoband
2q24.3
HGVS
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys)
Allele change
Missense_R616C

Associated conditions / phenotypes

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

Public references

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