Variant (rsID / SNP)

rs730881113

rs730881113 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,330,402. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TNNT2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:201330402
Cytoband: 1q32.1
HGVS: NM_001276345.2(TNNT2):c.810+5G>A
Allele change: Silent

Associated conditions / phenotypes

Cardiomyopathy|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|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.