Variant (rsID / SNP)
rs72648247
rs72648247 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,414,177. 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
- 2:179414177
- Cytoband
- 2q31.2
- HGVS
- NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
- Allele change
- Silent
Associated conditions / phenotypes
Cardiovascular phenotype|Hypertrophic cardiomyopathy|Early-onset myopathy with fatal cardiomyopathy|Dilated Cardiomyopathy, Dominant|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Limb-Girdle Muscular Dystrophy, Recessive|Supraventricular tachycardia|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|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.