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Variant (rsID / SNP)

rs147405081

TBX5

rs147405081 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX5. Location: chromosome 12, position 114,804,165. 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
12:114804165
Cytoband
12q24.21
HGVS
NM_181486.4(TBX5):c.787G>A (p.Val263Met)
Allele change
Missense_V213M

Associated conditions / phenotypes

Holt-Oram syndrome|Cardiovascular phenotype|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.