Variant (rsID / SNP)
rs151253841
rs151253841 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,611,126. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
TTNBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:179611126
- Cytoband
- 2q31.2
- HGVS
- NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu)
- Allele change
- Silent
Associated conditions / phenotypes
Tibial muscular dystrophy|Hypertrophic cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated Cardiomyopathy, Dominant|Limb-Girdle Muscular Dystrophy, Recessive|Early-onset myopathy with fatal cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.