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Variant (rsID / SNP)

rs397516455

TNNT2

rs397516455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,334,745. 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
1:201334745
Cytoband
1q32.1
HGVS
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)
Allele change
Missense_D86A

Associated conditions / phenotypes

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

Public references

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