Variant (rsID / SNP)

rs121964860

rs121964860 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,331,116. Clinical significance in the table: Pathogenic.

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Reference-table entries

TNNT2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:201331116
Cytoband: 1q32.1
HGVS: NM_001276345.2(TNNT2):c.644G>T (p.Arg215Leu)
Allele change: Missense_R205L

Associated conditions / phenotypes

Dilated cardiomyopathy 1D

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.