Variant (rsID / SNP)

rs727503499

rs727503499 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI3. Location: chromosome 19, position 55,663,261. 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: 19:55663261
Cytoband: 19q13.42
HGVS: NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)
Allele change: Synonymous_G191G

Associated conditions / phenotypes

Restrictive cardiomyopathy|Hypertrophic cardiomyopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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