View genomic variant #0000021362
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.131705667_131705668insC |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SLC22A5_000053 See all 3 reported entries |
MSCV |
MSCV_0001042 |
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 | RCV001383928; | Chromosome | 5:131705666..131705666 | ClinVar Allele ID | 1060208 | 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.131705666T>C | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | SLC22A5:6584 | Molecular consequence | SO:0001582|initiator codon variant, SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 1554085885 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000672799; | Chromosome | 5:131705666..131705666 | ClinVar Allele ID | 543299 | 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.131705666T>G | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | SLC22A5:6584 | Molecular consequence | SO:0001582|initiator codon variant, SO:0001583|missense variant | Allele origin | unknown | dbSNP ID | 1554085885 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000006779; | Chromosome | 5:131705667..131705668 | ClinVar Allele ID | 36680 | 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.131705668dup | ClinVar review status | no assertion criteria provided | Clinical Significance | Pathogenic | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Variant clinical sources reported | OMIM:603377.0002 | Gene symbol:Gene id. | SLC22A5:6584 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 377767443 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000006794; | Chromosome | 5:131705667..131705667 | ClinVar Allele ID | 21464 | 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.131705667G>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA340588|OMIM:603377.0018 | Gene symbol:Gene id. | SLC22A5:6584 | Molecular consequence | SO:0001582|initiator codon variant, SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 121908892 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV003039171; | Chromosome | 5:131705668..131705668 | ClinVar Allele ID | 2183018 | 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.131705668C>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. | SLC22A5:6584 | Molecular consequence | SO:0001819|synonymous variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001279115; | Chromosome | 5:131705668..131705668 | ClinVar Allele ID | 978120 | 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.131705668C>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. | SLC22A5:6584 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 762330138 | 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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