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Variant (rsID / SNP)

rs397517776

TTN

rs397517776 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,404,492. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TTNPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
Deletion
Chromosome / position
2:179404492
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Dilated cardiomyopathy 1G|SUDDEN INFANT DEATH SYNDROME

Public references

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