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Variant (rsID / SNP)

rs397516450

TNNT2

rs397516450 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,334,784. 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
1:201334784
Cytoband
1q32.1
HGVS
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser)
Allele change
Missense_N73S

Associated conditions / phenotypes

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