Variant (rsID / SNP)

rs397516358

rs397516358 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI3. Location: chromosome 19, position 55,663,256. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TNNI3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:55663256
Cytoband: 19q13.42
HGVS: NM_000363.5(TNNI3):c.579G>C (p.Lys193Asn)
Allele change: Missense_R193I

Associated conditions / phenotypes

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.