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Variant (rsID / SNP)

rs45520032

TNNT2

rs45520032 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,331,068. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TNNT2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:201331068
Cytoband
1q32.1
HGVS
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
Allele change
Missense_I221T

Associated conditions / phenotypes

Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Cardiomyopathy, familial restrictive, 3|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2|Cardiomyopathy|Dilated cardiomyopathy 1D

Public references

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