Variant (rsID / SNP)

rs104894378

rs104894378 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX5. Location: chromosome 12, position 114,823,326. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TBX5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:114823326
Cytoband: 12q24.21
HGVS: NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)
Allele change: Missense_R187Q

Associated conditions / phenotypes

Holt-Oram syndrome|Aortic valve disease 2

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.