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Variant (rsID / SNP)

rs397516844

TMPO

rs397516844 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPO. Location: chromosome 12, position 98,921,780. 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
12:98921780
Cytoband
12q23.1
HGVS
NM_001032283.3(TMPO):c.396T>A (p.Gly132=)
Allele change
Synonymous_G132G

Associated conditions / phenotypes

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.