Variant (rsID / SNP)

rs141387097

rs141387097 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPO. Location: chromosome 12, position 98,921,734. 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: 12:98921734
Cytoband: 12q23.1
HGVS: NM_001032283.3(TMPO):c.350A>G (p.Asn117Ser)
Allele change: Missense_N117S

Associated conditions / phenotypes

Loeys-Dietz syndrome 2|Cardiovascular phenotype

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.