Variant (rsID / SNP)

rs138790561

rs138790561 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPO. Location: chromosome 12, position 98,926,721. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TMPOBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:98926721
Cytoband: 12q23.1
HGVS: NM_001032283.3(TMPO):c.565+1105C>T
Allele change: Silent

Associated conditions / phenotypes

Cardiovascular phenotype|Loeys-Dietz syndrome 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.