MYBPC1 Chromosome 12
Myosin binding protein C1
Upload your DNA to see your personal genotypes for variants in MYBPC1.
What This Gene Does
This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
"I-set domain containing|Myosin binding proteins"
Locus Type
gene with protein product
Location
12q23.2
Ensembl
ENSG00000196091
Associated Conditions (11)
Inborn genetic diseases
Arthrogryposis
distal
type 1B
Myopathy
congenital
with tremor
Lethal congenital contracture syndrome 4
MYBPC1-related disorder
Distal arthrogryposis
Abnormality of the musculature
Key Variants
RS12146878
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138048478
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1B
Health Risk
RS138170393
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1B
Health Risk
RS139605474
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1B
Health Risk
RS146314887
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1B
Health Risk
RS1555250509
Conflicting classifications of pathogenicity
Myopathy, congenital, with tremor
Health Risk
RS199628742
Conflicting classifications of pathogenicity
Health Risk
RS200111933
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201472372
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1B
Health Risk
RS201921739
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1B
Health Risk
RS397515422
Conflicting classifications of pathogenicity
Lethal congenital contracture syndrome 4, Myopathy, congenital
Health Risk
RS546207140
Conflicting classifications of pathogenicity
MYBPC1-related disorder, MYBPC1-related disorder
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS12146878 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138048478 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1B |
| RS138170393 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1B |
| RS139605474 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1B |
| RS146314887 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1B |
| RS1555250509 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, congenital, with tremor |
| RS199628742 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200111933 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201472372 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1B |
| RS201921739 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1B |
| RS397515422 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital contracture syndrome 4, Myopathy, congenital |
| RS546207140 | Health Risk | Conflicting classifications of pathogenicity | MYBPC1-related disorder, MYBPC1-related disorder |
| RS752801065 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761232017 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1B |
| RS1064795032 | Health Risk | Likely pathogenic | — |
| RS1207085497 | Health Risk | Likely pathogenic | — |
| RS1555242493 | Health Risk | Likely pathogenic | Distal arthrogryposis, Distal arthrogryposis |
| RS2135990843 | Health Risk | Likely pathogenic | Abnormality of the musculature, Abnormality of the musculature |
| RS2547560732 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 1B |
| RS1565943228 | Health Risk | Pathogenic | MYBPC1-related disorder, Myopathy, congenital |
| RS1593846841 | Health Risk | Pathogenic | Myopathy, congenital, with tremor |
| RS387906657 | Health Risk | Pathogenic | Arthrogryposis, distal, type 1B |
| RS387906658 | Health Risk | Pathogenic | Arthrogryposis, distal, type 1B |
| RS1421405659 | Health Risk | Pathogenic/Likely pathogenic | MYBPC1-related disorder, Myopathy, congenital |
| RS564856283 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, congenital, with tremor |