View genomic variant #0000018700
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.30193873C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
C19orf12_000005 See all 3 reported entries |
MSCV |
MSCV_0000767 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000024153; RCV000414809; RCV000528859; RCV001781312; RCV003230372; | Chromosome | 19:30193873..30193873 | Allele frequencies from ExAC | 0.00002 | ClinVar Allele ID | 40114 | Disease database name and identifier | MONDO:MONDO:0014024, MedGen:C2680446, OMIM:615043, Orphanet:320370|MedGen:C3661900|MONDO:MONDO:0018307, MedGen:C2931845, OMIM:PS234200, Orphanet:385|MONDO:MONDO:0013674, MedGen:C3280371, OMIM:614298, Orphanet:289560|Human Phenotype Ontology:HP:0007830, MedGen:C4024790|Human Phenotype Ontology:HP:0007994, MedGen:C0241688|Human Phenotype Ontology:HP:0001268, Human Phenotype Ontology:HP:0002303, Human Phenotype Ontology:HP:0006822, Human Phenotype Ontology:HP:0007155, Human Phenotype Ontology:HP:0007253, Human Phenotype Ontology:HP:0007264, Human Phenotype Ontology:HP:0007298, MedGen:C0234985|Human Phenotype Ontology:HP:0001332, Human Phenotype Ontology:HP:0002328, MONDO:MONDO:0003441, MedGen:C0013421|Human Phenotype Ontology:HP:0001295, Human Phenotype Ontology:HP:0001309, Human Phenotype Ontology:HP:0001337, MedGen:C0040822 | ClinVar preferred disease name | Hereditary spastic paraplegia 43|not provided|Neurodegeneration with brain iron accumulation|Neurodegeneration with brain iron accumulation 4|Adult-onset night blindness|Peripheral visual field loss|Mental deterioration|Dystonic disorder|Tremor | HGVS variant names | NC 000019.9:g.30193873C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA345637|OMIM:614297.0003|UniProtKB:Q9NSK7#VAR 066620 | Gene symbol:Gene id. | C19orf12:83636 | Molecular consequence | SO:0001583|missense variant, SO:0001623|5 prime UTR variant | Allele origin | germline | dbSNP ID | 515726205 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
MSeqDR View Variant at Gbrowse Mitomap Mitochondrial Variant Phenotype Information:
None Ensembl Variant Phenotype Information:
None
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