View genomic variant #0000026587
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.158576393_158576396del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SERAC1_000016 |
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 | RCV002791405; | Chromosome | 6:158576393..158576393 | ClinVar Allele ID | 2053168 | Disease database name and identifier | MONDO:MONDO:0013875, MedGen:C4040739, OMIM:614739, Orphanet:352328 | ClinVar preferred disease name | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | HGVS variant names | NC 000006.11:g.158576399del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | SERAC1:84947 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000761487; | Chromosome | 6:158576393..158576396 | ClinVar Allele ID | 612352 | Disease database name and identifier | MONDO:MONDO:0013875, MedGen:C4040739, OMIM:614739, Orphanet:352328 | ClinVar preferred disease name | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | HGVS variant names | NC 000006.11:g.158576396 158576399del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | SERAC1:84947 | Molecular consequence | SO:0001627|intron variant | Allele origin | unknown | dbSNP ID | 779302645 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002284993; | Chromosome | 6:158576393..158576397 | ClinVar Allele ID | 1704767 | Disease database name and identifier | MONDO:MONDO:0013875, MedGen:C4040739, OMIM:614739, Orphanet:352328 | ClinVar preferred disease name | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | HGVS variant names | NC 000006.11:g.158576395 158576399del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | SERAC1:84947 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | 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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