View genomic variant #0000015303
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.53668099C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPT2_000012 See all 2 reported entries |
MSCV |
MSCV_0000024 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.00138 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000009510; RCV000194764; RCV000185836; RCV000202499; RCV000515252; RCV000576571; RCV000624845; RCV000662284; RCV001004157; RCV001813968; RCV003137507; | Chromosome | 1:53668099..53668099 | Allele frequencies from ESP | 0.00138 | Allele frequencies from ExAC | 0.00127 | Allele frequencies from TGP | 0.00060 | ClinVar Allele ID | 23992 | Disease database name and identifier | Human Phenotype Ontology:HP:0003201, MedGen:C0035410|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|MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0015515, MedGen:C0342790, Orphanet:157|MedGen:C3661900|Human Phenotype Ontology:HP:0003011, Human Phenotype Ontology:HP:0003197, Human Phenotype Ontology:HP:0003708, MedGen:C4021745 | ClinVar preferred disease name | Rhabdomyolysis|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|Inborn genetic diseases|Carnitine palmitoyltransferase II deficiency|not provided|Abnormality of the musculature | HGVS variant names | NC 000001.10:g.53668099C>T | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(31)|Likely pathogenic(2)|Uncertain significance(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA254605|Genetic Testing Registry (GTR):GTR000604056|OMIM:600650.0002|UniProtKB:P23786#VAR 001392 | Gene symbol:Gene id. | CPT2:1376 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 74315294 | 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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