Variant (rsID / SNP)

rs747756509

rs747756509 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI3. Location: chromosome 19, position 55,665,476. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TNNI3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:55665476
Cytoband: 19q13.42
HGVS: NM_000363.5(TNNI3):c.471G>A (p.Ala157=)
Allele change: Missense_R157H

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|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.