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Variant (rsID / SNP)

rs397516471

TNNT2

rs397516471 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,332,476. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TNNT2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:201332476
Cytoband
1q32.1
HGVS
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)
Allele change
Missense_R173Q

Associated conditions / phenotypes

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

Public references

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