Variant (rsID / SNP)

rs200043223

rs200043223 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX19. Location: chromosome 1, position 168,260,395. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TBX19Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:168260395
Cytoband: 1q24.2
HGVS: NM_005149.3(TBX19):c.204-3T>C
Allele change: Silent

Associated conditions / phenotypes

Congenital isolated adrenocorticotropic hormone deficiency

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.