Variant (rsID / SNP)
rs56169243
rs56169243 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,438,727. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:179438727
- Cytoband
- 2q31.2
- HGVS
- NM_001267550.2(TTN):c.72132T>C (p.Gly24044_Glu24045=)
- Allele change
- Silent
Associated conditions / phenotypes
Cardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy|Toe walking
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.