Variant (rsID / SNP)
rs72646846
rs72646846 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,454,576. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TTNPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:179454576
- Cytoband
- 2q31.2
- HGVS
- NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
- Allele change
- Silent
Associated conditions / phenotypes
Primary dilated cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy|Dilated cardiomyopathy 1A|Dilated cardiomyopathy 1G
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.