Variant (rsID / SNP)

rs730880365

rs730880365 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,414,725. 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: Duplication
Chromosome / position: 2:179414725
Cytoband: 2q31.2
HGVS: NM_001267550.2(TTN):c.91839dup (p.Val30614fs)

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Cardiomyopathy|Primary familial dilated cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J

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.