Variant (rsID / SNP)
rs117551279
rs117551279 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,594,573. 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
- 2:179594573
- Cytoband
- 2q31.2
- HGVS
- NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln)
- Allele change
- Missense_R5819Q
Associated conditions / phenotypes
Cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.