View genomic variant #0000015315
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Probably does not affect function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.53676401T>G |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPT2_000026 |
MSCV |
MSCV_0015315 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.00715 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV003091616; | Chromosome | 1:53676401..53676401 | ClinVar Allele ID | 1891530 | Disease database name and identifier | MONDO:MONDO:0015515, MedGen:C0342790, Orphanet:157 | ClinVar preferred disease name | Carnitine palmitoyltransferase II deficiency | HGVS variant names | NC 000001.10:g.53676401T>C | 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. | CPT2:1376 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000078115; RCV000202443; RCV000444353; RCV000578014; RCV003452999; RCV003453000; RCV003453001; RCV003456002; | Chromosome | 1:53676401..53676401 | Allele frequencies from ESP | 0.00715 | Allele frequencies from ExAC | 0.02184 | Allele frequencies from TGP | 0.04653 | ClinVar Allele ID | 39073 | Disease database name and identifier | MONDO:MONDO:0012136, MedGen:C1833518, OMIM:608836, Orphanet:228308|MONDO:MONDO:0010914, MedGen:C1833511, OMIM:600649, Orphanet:228305|MONDO:MONDO:0015515, MedGen:C0342790, Orphanet:157|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013633, MedGen:C3280160, OMIM:614212, Orphanet:263524|MONDO:MONDO:0009704, MedGen:C1833508, OMIM:255110, Orphanet:157, Orphanet:228302 | ClinVar preferred disease name | Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|not specified|not provided|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, myopathic form | HGVS variant names | NC 000001.10:g.53676401T>G | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA145733|OMIM:600650.0018|UniProtKB:P23786#VAR 001394 | Gene symbol:Gene id. | CPT2:1376 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 2229291 | For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN | MONDO:MONDO:0013633, MedGen:C3280160, OMIM:614212, Orphanet:263524 | For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB | Encephalopathy, acute, infection-induced, susceptibility to, 4 | Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. | 30118:risk factor | 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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