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Variant (rsID / SNP)

rs202160275

TTN

rs202160275 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,574,539. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TTNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:179574539
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)
Allele change
Missense_V9186I

Associated conditions / phenotypes

Cardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy

Public references

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