MIR4733HG
Basic information
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Neurofibromatosis, type 1 (121 variants)
- Hereditary cancer-predisposing syndrome;Cardiovascular phenotype (33 variants)
- not provided (21 variants)
- Neurofibromatosis-Noonan syndrome (19 variants)
- Café-au-lait macules with pulmonary stenosis (19 variants)
- Neurofibromatosis, familial spinal (19 variants)
- Cardiovascular phenotype;Hereditary cancer-predisposing syndrome (17 variants)
- Hereditary cancer-predisposing syndrome (10 variants)
- not specified (2 variants)
- Abnormality of the skin (1 variants)
- Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia (1 variants)
- Juvenile myelomonocytic leukemia;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, type 1 (1 variants)
- Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia (1 variants)
- NF1-related condition (1 variants)
- Juvenile myelomonocytic leukemia (1 variants)
- Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR4733HG gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region ? | 0 | |||||
non coding ? | 24 | 72 | 39 | 145 | ||
Total | 24 | 9 | 73 | 39 | 1 |
GnomAD
Source:
dbNSFP
Source: