Variant (rsID / SNP)

rs202035749

rs202035749 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPO. Location: chromosome 12, position 98,927,992. 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: 12:98927992
Cytoband: 12q23.1
HGVS: NM_001032283.3(TMPO):c.565+2376C>T
Allele change: Silent

Associated conditions / phenotypes

Arrhythmogenic right ventricular cardiomyopathy|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.