Variant (rsID / SNP)

rs727503500

rs727503500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI3. Location: chromosome 19, position 55,663,267. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TNNI3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:55663267
Cytoband: 19q13.42
HGVS: NM_000363.5(TNNI3):c.568G>T (p.Asp190Tyr)
Allele change: Missense_E189D

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.