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Variant (rsID / SNP)

rs397516845

TNNC1

rs397516845 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNC1. Location: chromosome 3, position 52,485,474. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TNNC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:52485474
Cytoband
3p21.1
HGVS
NM_003280.3(TNNC1):c.387G>C (p.Thr129=)
Allele change
Synonymous_T129T

Associated conditions / phenotypes

Dilated cardiomyopathy 1Z|Hypertrophic cardiomyopathy 13|Cardiovascular phenotype|Dilated cardiomyopathy 1Z|Hypertrophic cardiomyopathy 13

Public references

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