View genomic variant #0000018691
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.30193654T>C |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
C19orf12_000007 See all 2 reported entries |
MSCV |
MSCV_0000764 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.00123 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000024154; RCV000415210; RCV000509226; RCV000553096; RCV000714889; RCV001083182; RCV001844017; RCV001847623; | Chromosome | 19:30193654..30193654 | Allele frequencies from ESP | 0.00123 | Allele frequencies from ExAC | 0.00244 | Allele frequencies from TGP | 0.00220 | ClinVar Allele ID | 40115 | Disease database name and identifier | MONDO:MONDO:0014024, MedGen:C2680446, OMIM:615043, Orphanet:320370|MONDO:MONDO:0013674, MedGen:C3280371, OMIM:614298, Orphanet:289560|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685|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:0001295, Human Phenotype Ontology:HP:0001309, Human Phenotype Ontology:HP:0001337, MedGen:C0040822|Human Phenotype Ontology:HP:0001332, Human Phenotype Ontology:HP:0002328, MONDO:MONDO:0003441, MedGen:C0013421|Human Phenotype Ontology:HP:0007830, MedGen:C4024790|Human Phenotype Ontology:HP:0007994, MedGen:C0241688|MONDO:MONDO:0010047, MedGen:C1849115, OMIM:270800, Orphanet:100986 | ClinVar preferred disease name | Hereditary spastic paraplegia 43|Neurodegeneration with brain iron accumulation 4|not specified|not provided|Hereditary spastic paraplegia|Mental deterioration|Tremor|Dystonic disorder|Adult-onset night blindness|Peripheral visual field loss|Hereditary spastic paraplegia 5A | HGVS variant names | NC 000019.9:g.30193654T>C | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(1)|Uncertain significance(4)|Benign(2)|Likely benign(3) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA259994|OMIM:614297.0004 | Gene symbol:Gene id. | C19orf12:83636 | Molecular consequence | SO:0001583|missense variant, SO:0001624|3 prime UTR variant | Allele origin | | dbSNP ID | 146170087 | 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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