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TTN and cardiomyopathy are reported together in 1 article.
Gene
TTN
- HGNC
- HGNC:12403
11articles
11mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Cardiomyopathy
- HPO
- HP:0001638
618articles
618mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.
PMID 31664938 | PMCID PMC6819411 | DOI 10.1186/s12881-019-0895-7 · BMC medical genetics · 2019 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TTN | “Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.” | 0.98 | hgnc_dict_v1 |
| phenotype | cardiomyopathy | “Pathogenic mutations in the gene encoding the giant skeletal muscle protein titin (TTN) are associated with several muscle disorders, including cardiomyopathy, recessive congenital myopathies and limb-girdle muscular dystrophy (LGMD) type10.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “AIM: This study aimed to identify the pathogenic variant in a consanguineous Pakistani family with autosomal recessive LGMD type 10. CONCLUSION: We identified a homozygous missense variant in TTN, which likely explains LGMD type 10 in this family in line with similar previously reported data.” | 0.80 | saudi_context_rules_v1 |
| variant | p.Arg32936His | “RESULTS: Whole exome sequencing analysis revealed a novel homozygous missense variant (c.98807G > A; p.Arg32936His) in the TTN gene in the index patients.” | 0.95 | hgvs_regex_v1 |