View genomic variant #0000000026
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.53675866G>A |
Published as |
- |
GERP |
5.600 |
Segregation |
- |
DB-ID |
CPT2_000008 See all 2 reported entries |
MSCV |
MSCV_0000026 |
dbSNP ID |
rs28936674 |
Frequency |
- |
Sources |
; clinvar; ensembl; |
Reference |
8682496 |
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 | RCV000009516; RCV000202437; RCV003473064; | Chromosome | 1:53675866..53675866 | Allele frequencies from ExAC | 0.00001 | ClinVar Allele ID | 23996 | Disease database name and identifier | MONDO:MONDO:0015515, MedGen:C0342790, Orphanet:157|MONDO:MONDO:0013633, MedGen:C3280160, OMIM:614212, Orphanet:263524|MONDO:MONDO:0010914, MedGen:C1833511, OMIM:600649, Orphanet:228305 | ClinVar preferred disease name | Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, severe infantile form | HGVS variant names | NC 000001.10:g.53675866G>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:CA254609|Genetic Testing Registry (GTR):GTR000604056|OMIM:600650.0006|UniProtKB:P23786#VAR 001393 | Gene symbol:Gene id. | CPT2:1376 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 28936674 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002497967; RCV002033420; RCV003453926; RCV003453925; RCV003456268; RCV003453924; | Chromosome | 1:53675866..53675866 | ClinVar Allele ID | 1406780 | Disease database name and identifier | MONDO:MONDO:0012136, MedGen:C1833518, OMIM:608836, Orphanet:228308|MONDO:MONDO:0013633, MedGen:C3280160, OMIM:614212, Orphanet:263524|MONDO:MONDO:0010914, MedGen:C1833511, OMIM:600649, Orphanet:228305|MONDO:MONDO:0009704, MedGen:C1833508, OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0015515, MedGen:C0342790, Orphanet:157 | ClinVar preferred disease name | Carnitine palmitoyl transferase II deficiency, neonatal form|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyltransferase II deficiency | HGVS variant names | NC 000001.10:g.53675866G>C | ClinVar review status | criteria provided, multiple submitters, no conflicts | 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 | dbSNP ID | 28936674 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000665286; RCV002530652; | Chromosome | 1:53675866..53675866 | ClinVar Allele ID | 541317 | Disease database name and identifier | MONDO:MONDO:0015515, MedGen:C0342790, Orphanet:157|MONDO:MONDO:0010914, MedGen:C1833511, OMIM:600649, Orphanet:228305 | ClinVar preferred disease name | Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form | HGVS variant names | NC 000001.10:g.53675866G>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 | Gene symbol:Gene id. | CPT2:1376 | Molecular consequence | SO:0001587|nonsense | Allele origin | germline | dbSNP ID | 28936674 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002007514; | Chromosome | 1:53675867..53675867 | ClinVar Allele ID | 1438795 | 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.53675868del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | CPT2:1376 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 2100271968 | 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
|