Variant (rsID / SNP)

rs121964858

rs121964858 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,334,372. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TNNT2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:201334372
Cytoband: 1q32.1
HGVS: NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile)
Allele change: Missense_F110I

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|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.