Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs397516480

TNNT2

rs397516480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,330,508. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TNNT2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
Deletion
Chromosome / position
1:201330508
Cytoband
1q32.1
HGVS
NM_001276345.2(TNNT2):c.720-13_720-11del

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.