View genomic variant #0000015311
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.53676232C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPT2_000022 |
MSCV |
MSCV_0015311 |
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 | RCV002627981; | Chromosome | 1:53676232..53676232 | ClinVar Allele ID | 1919025 | 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.53676232C>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. | CPT2:1376 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000153105; RCV000169096; RCV000539401; RCV002498726; RCV003474808; | Chromosome | 1:53676232..53676232 | Allele frequencies from ExAC | 0.00001 | ClinVar Allele ID | 177194 | Disease database name and identifier | MONDO:MONDO:0015515, MedGen:C0342790, Orphanet:157|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|MedGen:C3661900 | ClinVar preferred disease name | Carnitine palmitoyltransferase II deficiency|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|not provided | HGVS variant names | NC 000001.10:g.53676232C>T | 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:CA273324 | Gene symbol:Gene id. | CPT2:1376 | Molecular consequence | SO:0001587|nonsense | Allele origin | germline | dbSNP ID | 727503887 | 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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