Variant (rsID / SNP)

rs267607130

rs267607130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI3. Location: chromosome 19, position 55,668,420. 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: 19:55668420
Cytoband: 19q13.42
HGVS: NM_000363.5(TNNI3):c.106A>C (p.Lys36Gln)
Allele change: Synonymous_P35P

Associated conditions / phenotypes

Dilated cardiomyopathy 1FF

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.