View genomic variant #0000015302
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.53662764C>A |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPT2_000011 See all 2 reported entries |
MSCV |
MSCV_0000023 |
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 | RCV000009511; RCV000009512; RCV000202440; RCV000440440; RCV000735345; RCV000762941; RCV003473063; | Chromosome | 1:53662764..53662764 | Allele frequencies from ExAC | 0.00017 | ClinVar Allele ID | 23993 | 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|MedGen:C3661900|Human Phenotype Ontology:HP:0002387, Human Phenotype Ontology:HP:0002459, Human Phenotype Ontology:HP:0007310, Human Phenotype Ontology:HP:0012332, MONDO:MONDO:0044872, MedGen:C0013363|Human Phenotype Ontology:HP:0005764, MONDO:MONDO:0024280, MedGen:C0162323|Human Phenotype Ontology:HP:0001369, MONDO:MONDO:0005578, MedGen:C0003864|Human Phenotype Ontology:HP:0012532, MedGen:C0150055|Human Phenotype Ontology:HP:0011703, MedGen:C0039239|Human Phenotype Ontology:HP:0040182, MedGen:C1881170|Human Phenotype Ontology:HP:0002579, MedGen:C1836923|Human Phenotype Ontology:HP:0001876, MONDO:MONDO:0001529, MedGen:C0030312 | 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|not provided|Abnormal autonomic nervous system physiology|Polyarticular arthritis|Arthritis|Chronic pain|Sinus tachycardia|Inappropriate sinus tachycardia|Gastrointestinal dysmotility|Pancytopenia | HGVS variant names | NC 000001.10:g.53662764C>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA254606|Genetic Testing Registry (GTR):GTR000604056|OMIM:600650.0003|UniProtKB:P23786#VAR 001391 | Gene symbol:Gene id. | CPT2:1376|LOC129930561:129930561 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 28936375 | 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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