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Variant (rsID / SNP)

rs727504244

TNNT2

rs727504244 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,334,755. 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
1:201334755
Cytoband
1q32.1
HGVS
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys)
Allele change
Missense_E83K

Associated conditions / phenotypes

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

Public references

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