Variant (rsID / SNP)

rs74447004

rs74447004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC21B. Location: chromosome 2, position 166,789,554. 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: 2:166789554
Cytoband: 2q24.3
HGVS: NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn)
Allele change: Missense_D242N

Associated conditions / phenotypes

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

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.