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Variant (rsID / SNP)

rs138295270

TMPO

rs138295270 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPO. Location: chromosome 12, position 98,927,984. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TMPOConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:98927984
Cytoband
12q23.1
HGVS
NM_001032283.3(TMPO):c.565+2368G>A
Allele change
Silent

Associated conditions / phenotypes

Cardiovascular phenotype|Loeys-Dietz syndrome 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.