View genomic variant #0000000768
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
del |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.30193879_30193881del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
C19orf12_000001 See all 2 reported entries |
MSCV |
MSCV_0000768 |
dbSNP ID |
rs398122409 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
23857908;22584950 |
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 | RCV002237737; RCV002293552; | Chromosome | 19:30193878..30193879 | ClinVar Allele ID | 1674731 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0014024, MedGen:C2680446, OMIM:615043, Orphanet:320370 | ClinVar preferred disease name | not provided|Hereditary spastic paraplegia 43 | HGVS variant names | NC 000019.9:g.30193885dup | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Likely pathogenic(1)|Uncertain significance(1) | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | C19orf12:83636 | Allele origin | germline | dbSNP ID | 398122409 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001848364; RCV002236027; RCV002473307; | Chromosome | 19:30193879..30193879 | ClinVar Allele ID | 1335964 | Disease database name and identifier | MONDO:MONDO:0019064, MedGen:C0037773, OMIM:PS303350, Orphanet:685|MONDO:MONDO:0014024, MedGen:C2680446, OMIM:615043, Orphanet:320370|MedGen:C3661900 | ClinVar preferred disease name | Hereditary spastic paraplegia|Hereditary spastic paraplegia 43|not provided | HGVS variant names | NC 000019.9:g.30193885del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | C19orf12:83636 | Allele origin | germline | dbSNP ID | 398122409 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000074455; RCV001311507; RCV002265593; | Chromosome | 19:30193879..30193881 | ClinVar Allele ID | 94435 | Disease database name and identifier | MONDO:MONDO:0018307, MedGen:C2931845, OMIM:PS234200, Orphanet:385|MedGen:C3661900|MONDO:MONDO:0013674, MedGen:C3280371, OMIM:614298, Orphanet:289560 | ClinVar preferred disease name | Neurodegeneration with brain iron accumulation|not provided|Neurodegeneration with brain iron accumulation 4 | HGVS variant names | NC 000019.9:g.30193883 30193885del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA266201|OMIM:614297.0007 | Gene symbol:Gene id. | C19orf12:83636 | Molecular consequence | SO:0001574|splice acceptor variant | Allele origin | | dbSNP ID | 398122409 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002235479; | Chromosome | 19:30193880..30193880 | Allele frequencies from TGP | 0.00020 | ClinVar Allele ID | 688978 | Disease database name and identifier | MONDO:MONDO:0014024, MedGen:C2680446, OMIM:615043, Orphanet:320370 | ClinVar preferred disease name | Hereditary spastic paraplegia 43 | HGVS variant names | NC 000019.9:g.30193880C>A | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | C19orf12:83636 | Molecular consequence | SO:0001623|5 prime UTR variant, SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 201194487 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000869606; RCV002265905; | Chromosome | 19:30193880..30193880 | Allele frequencies from ESP | 0.00031 | ClinVar Allele ID | 688979 | Disease database name and identifier | MedGen:CN169374|MONDO:MONDO:0014024, MedGen:C2680446, OMIM:615043, Orphanet:320370 | ClinVar preferred disease name | not specified|Hereditary spastic paraplegia 43 | HGVS variant names | NC 000019.9:g.30193880C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | C19orf12:83636 | Molecular consequence | SO:0001623|5 prime UTR variant, SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 201194487 | 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
|