Variant (rsID / SNP)
rs146496197
rs146496197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,640,923. 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
- 2:179640923
- Cytoband
- 2q31.2
- HGVS
- NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)
- Allele change
- Missense_R1890C
Associated conditions / phenotypes
Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Systolic heart failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.