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Variant (rsID / SNP)

rs200461617

TBX5

rs200461617 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX5. Location: chromosome 12, position 114,841,649. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TBX5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:114841649
Cytoband
12q24.21
HGVS
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser)
Allele change
Silent

Associated conditions / phenotypes

Cardiovascular phenotype|Holt-Oram syndrome|Aortic valve disease 2

Public references

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