View genomic variant #0000025539
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.30193884C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
C19orf12_000107 |
MSCV |
- |
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 |
Lishuang Shen |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000454138; RCV000486662; RCV001095481; | Chromosome | 19:30193884..30193884 | ClinVar Allele ID | 389176 | Disease database name and identifier | MedGen:CN517202|Human Phenotype Ontology:HP:0000754, Human Phenotype Ontology:HP:0001255, Human Phenotype Ontology:HP:0001263, Human Phenotype Ontology:HP:0001277, Human Phenotype Ontology:HP:0001292, Human Phenotype Ontology:HP:0002433, Human Phenotype Ontology:HP:0002473, Human Phenotype Ontology:HP:0002532, Human Phenotype Ontology:HP:0006793, Human Phenotype Ontology:HP:0006867, Human Phenotype Ontology:HP:0006885, Human Phenotype Ontology:HP:0006935, Human Phenotype Ontology:HP:0007005, Human Phenotype Ontology:HP:0007094, Human Phenotype Ontology:HP:0007106, Human Phenotype Ontology:HP:0007174, Human Phenotype Ontology:HP:0007224, Human Phenotype Ontology:HP:0007228, Human Phenotype Ontology:HP:0007342, Human Phenotype Ontology:HP:0025356, MedGen:C0557874|Human Phenotype Ontology:HP:0000730, Human Phenotype Ontology:HP:0001249, Human Phenotype Ontology:HP:0001267, Human Phenotype Ontology:HP:0001286, Human Phenotype Ontology:HP:0002122, Human Phenotype Ontology:HP:0002192, Human Phenotype Ontology:HP:0002316, Human Phenotype Ontology:HP:0002382, Human Phenotype Ontology:HP:0002386, Human Phenotype Ontology:HP:0002402, Human Phenotype Ontology:HP:0002458, Human Phenotype Ontology:HP:0002482, Human Phenotype Ontology:HP:0002499, Human Phenotype Ontology:HP:0002543, Human Phenotype Ontology:HP:0003767, Human Phenotype Ontology:HP:0006833, Human Phenotype Ontology:HP:0007154, Human Phenotype Ontology:HP:0007176, Human Phenotype Ontology:HP:0007180, MONDO:MONDO:0001071, MeSH:D008607, MedGen:C3714756|MONDO:MONDO:0013674, MedGen:C3280371, OMIM:614298, Orphanet:289560 | ClinVar preferred disease name | not provided|Global developmental delay|Intellectual disability|Neurodegeneration with brain iron accumulation 4 | HGVS variant names | NC 000019.9:g.30193884C>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA9351930 | Gene symbol:Gene id. | C19orf12:83636 | Molecular consequence | SO:0001583|missense variant, SO:0001623|5 prime UTR variant | Allele origin | | dbSNP ID | 752450983 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001559088; RCV002241377; RCV003317513; | Chromosome | 19:30193884..30193884 | ClinVar Allele ID | 1185433 | Disease database name and identifier | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014024, MedGen:C2680446, OMIM:615043, Orphanet:320370 | ClinVar preferred disease name | not provided|not specified|Hereditary spastic paraplegia 43 | HGVS variant names | NC 000019.9:g.30193884C>G | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | C19orf12:83636 | Molecular consequence | SO:0001583|missense variant, SO:0001623|5 prime UTR variant | Allele origin | germline | dbSNP ID | 752450983 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000754614; RCV000821485; RCV001544960; RCV002271579; | Chromosome | 19:30193884..30193884 | ClinVar Allele ID | 608843 | Disease database name and identifier | MONDO:MONDO:0018307, MedGen:C2931845, OMIM:PS234200, Orphanet:385|MONDO:MONDO:0013674, MedGen:C3280371, OMIM:614298, Orphanet:289560|MONDO:MONDO:0014024, MedGen:C2680446, OMIM:615043, Orphanet:320370|MedGen:CN517202 | ClinVar preferred disease name | Neurodegeneration with brain iron accumulation|Neurodegeneration with brain iron accumulation 4|Hereditary spastic paraplegia 43|not provided | HGVS variant names | NC 000019.9:g.30193884C>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 | Gene symbol:Gene id. | C19orf12:83636 | Molecular consequence | SO:0001583|missense variant, SO:0001623|5 prime UTR variant | Allele origin | germline | dbSNP ID | 752450983 | 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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