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Variant (rsID / SNP)

rs104894727

TNNI3

rs104894727 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI3. Location: chromosome 19, position 55,663,249. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TNNI3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:55663249
Cytoband
19q13.42
HGVS
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
Allele change
Synonymous_S195S

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 7|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy

Public references

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