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Variant (rsID / SNP)

rs727503586

TTN

rs727503586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,454,235. 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
single nucleotide variant
Chromosome / position
2:179454235
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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