View genomic variant #0000000029
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.53676494T>A |
Published as |
- |
GERP |
4.690 |
Segregation |
- |
DB-ID |
CPT2_000007 See all 2 reported entries |
MSCV |
MSCV_0000029 |
dbSNP ID |
rs74315295 |
Frequency |
- |
Sources |
; clinvar; ensembl; |
Reference |
17709715;8682496 |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
8.0E-5 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000009517; RCV000009518; RCV000202462; RCV000411002; RCV000762943; RCV001004159; RCV001270097; RCV003473065; | Chromosome | 1:53676494..53676494 | Allele frequencies from ExAC | 0.00003 | ClinVar Allele ID | 23997 | Disease database name and identifier | MONDO:MONDO:0010914, MedGen:C1833511, OMIM:600649, Orphanet:228305|MONDO:MONDO:0009704, MedGen:C1833508, OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0013633, MedGen:C3280160, OMIM:614212, Orphanet:263524|MONDO:MONDO:0012136, MedGen:C1833518, OMIM:608836, Orphanet:228308|MONDO:MONDO:0015515, MedGen:C0342790, Orphanet:157|Human Phenotype Ontology:HP:0001250, Human Phenotype Ontology:HP:0001275, Human Phenotype Ontology:HP:0001303, Human Phenotype Ontology:HP:0002125, Human Phenotype Ontology:HP:0002182, Human Phenotype Ontology:HP:0002279, Human Phenotype Ontology:HP:0002306, Human Phenotype Ontology:HP:0002348, Human Phenotype Ontology:HP:0002391, Human Phenotype Ontology:HP:0002417, Human Phenotype Ontology:HP:0002430, Human Phenotype Ontology:HP:0002431, Human Phenotype Ontology:HP:0002432, Human Phenotype Ontology:HP:0002434, Human Phenotype Ontology:HP:0002437, Human Phenotype Ontology:HP:0002466, Human Phenotype Ontology:HP:0002479, Human Phenotype Ontology:HP:0002794, Human Phenotype Ontology:HP:0006997, Human Phenotype Ontology:HP:0010520, MedGen:C0036572|Human Phenotype Ontology:HP:0000707, Human Phenotype Ontology:HP:0001333, Human Phenotype Ontology:HP:0006987, MONDO:MONDO:0002320, MedGen:C0497552 | ClinVar preferred disease name | Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, myopathic form|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyltransferase II deficiency|Seizure|Abnormality of the nervous system | HGVS variant names | NC 000001.10:g.53676494T>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA254610|Genetic Testing Registry (GTR):GTR000604056|OMIM:600650.0007|UniProtKB:P23786#VAR 001396 | Gene symbol:Gene id. | CPT2:1376 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 74315295 | 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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