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Variant (rsID / SNP)

rs149925563

TTC21B

rs149925563 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC21B. Location: chromosome 2, position 166,797,556. 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
2:166797556
Cytoband
2q24.3
HGVS
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)
Allele change
Missense_T231S

Associated conditions / phenotypes

Joubert syndrome 1|Nephronophthisis|Jeune thoracic dystrophy|Nephronophthisis 12|Asphyxiating thoracic dystrophy 4

Public references

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