Variant (rsID / SNP)

rs727504659

rs727504659 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPO. Location: chromosome 12, position 98,909,897. Clinical significance in the table: Likely benign.

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Reference-table entries

TMPOLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:98909897
Cytoband: 12q23.1
HGVS: NM_001032283.3(TMPO):c.252G>T (p.Ala84=)
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.