Dilated Cardiomyopathy 1S(MYH7 familial isolated dilated cardiomyopathy) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cardiovascular disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Cardiovascular disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | MYH7/4625 | myosin heavy chain 7 | 14q11.2 | Chr14, NC_000014.9 (23412740..23435660, complement) |
22921 nt | 40 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TTN/7273 | titin | 2q31.2 | Chr2, NC_000002.12 (178525989..178807423, complement) |
281435 nt | 364 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | DES/1674 | desmin | 2q35 | Chr2, NC_000002.12 (219418377..219426734) |
8358 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | DSP/1832 | desmoplakin | 6p24.3 | Chr6, NC_000006.12 (7541671..7586714) |
45044 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | RBM20/282996 | RNA binding motif protein 20 | 10q25.2 | Chr10, NC_000010.11 (110643245..110839468) |
196224 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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