Variant (rsID / SNP)

rs104894728

rs104894728 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI3. Location: chromosome 19, position 55,663,266. Clinical significance in the table: Pathogenic.

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Reference-table entries

TNNI3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:55663266
Cytoband: 19q13.42
HGVS: NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly)
Allele change: Missense_T190A

Associated conditions / phenotypes

Cardiomyopathy, familial restrictive, 1|Hypertrophic cardiomyopathy 7

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.