Variant (rsID / SNP)

rs267607129

rs267607129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI3. Location: chromosome 19, position 55,663,280. 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: 19:55663280
Cytoband: 19q13.42
HGVS: NM_000363.5(TNNI3):c.555C>G (p.Asn185Lys)
Allele change: Missense_T185S

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.