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Variant (rsID / SNP)

rs397516484

TNNT2

rs397516484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,328,372. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TNNT2Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
1:201328372
Cytoband
1q32.1
HGVS
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)
Allele change
Missense_R278P

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|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.