View genomic variant #0000021383
Chromosome |
5 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.131705896del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SLC22A5_000070 See all 2 reported entries |
MSCV |
MSCV_0001061 |
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 | RCV000022306; | Chromosome | 5:131705896..131705896 | ClinVar Allele ID | 36693 | Disease database name and identifier | MONDO:MONDO:0008919, MedGen:C0342788, OMIM:212140, Orphanet:158 | ClinVar preferred disease name | Renal carnitine transport defect | HGVS variant names | NC 000005.9:g.131705899del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA342622 | Gene symbol:Gene id. | SLC22A5:6584 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 377767447 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001066489; RCV001772295; RCV002226514; | Chromosome | 5:131705896..131705896 | ClinVar Allele ID | 830058 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0008919, MedGen:C0342788, OMIM:212140, Orphanet:158|Human Phenotype Ontology:HP:0003234, MedGen:C1142132 | ClinVar preferred disease name | not provided|Renal carnitine transport defect|Decreased circulating carnitine concentration | HGVS variant names | NC 000005.9:g.131705896C>T | 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. | SLC22A5:6584 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 1485828747 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002030793; | Chromosome | 5:131705897..131705897 | ClinVar Allele ID | 1355852 | Disease database name and identifier | MONDO:MONDO:0008919, MedGen:C0342788, OMIM:212140, Orphanet:158 | ClinVar preferred disease name | Renal carnitine transport defect | HGVS variant names | NC 000005.9:g.131705897C>G | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | SLC22A5:6584 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 1751846688 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001359296; RCV002226545; | Chromosome | 5:131705897..131705897 | ClinVar Allele ID | 1043264 | Disease database name and identifier | MONDO:MONDO:0008919, MedGen:C0342788, OMIM:212140, Orphanet:158|Human Phenotype Ontology:HP:0003234, MedGen:C1142132 | ClinVar preferred disease name | Renal carnitine transport defect|Decreased circulating carnitine concentration | HGVS variant names | NC 000005.9:g.131705897C>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | SLC22A5:6584 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 1751846688 | 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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