Variant (rsID / SNP)

rs121917761

rs121917761 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI3. Location: chromosome 19, position 55,665,436. 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: 19:55665436
Cytoband: 19q13.42
HGVS: NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr)
Allele change: Synonymous_G170G

Associated conditions / phenotypes

Cardiomyopathy, familial restrictive, 1|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.