Variant (rsID / SNP)

rs114124210

rs114124210 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX5. Location: chromosome 12, position 114,793,660. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TBX5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:114793660
Cytoband: 12q24.21
HGVS: NM_181486.4(TBX5):c.1234G>A (p.Val412Ile)
Allele change: Missense_V362I

Associated conditions / phenotypes

Cardiovascular phenotype|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.