Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs45501500

TNNT2

rs45501500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,332,518. Clinical significance in the table: Uncertain significance.

Reference-table entries

TNNT2Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
1:201332518
Cytoband
1q32.1
HGVS
NM_001276345.2(TNNT2):c.506G>A (p.Arg169Gln)
Allele change
Missense_R159Q

Associated conditions / phenotypes

Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Cardiomyopathy

Public references

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