Variant (rsID / SNP)
rs72648997
rs72648997 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,575,832. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TTNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:179575832
- Cytoband
- 2q31.2
- HGVS
- NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
- Allele change
- Synonymous_N9060N
Associated conditions / phenotypes
Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Cardiomyopathy|Dilated cardiomyopathy 1G|Tibial muscular dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.