Variant (rsID / SNP)

rs144787542

rs144787542 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAP1, DNASE1. Location: chromosome 16, position 3,714,438. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TRAP1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:3714438
Cytoband: 16p13.3
HGVS: NM_016292.3(TRAP1):c.1406G>A (p.Arg469His)
Allele change: Missense_R469H

Associated conditions / phenotypes

Congenital anomaly of kidney and urinary tract

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.