Variant (rsID / SNP)

rs397516464

rs397516464 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,333,493. 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: 1:201333493
Cytoband: 1q32.1
HGVS: NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln)
Allele change: Missense_R131P

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3

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.