View genomic variant #0000015297
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.53662650del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPT2_000039 |
MSCV |
MSCV_0015297 |
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 | RCV002037126; | Chromosome | 1:53662649..53662649 | ClinVar Allele ID | 1443191 | 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.53662649C>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | CPT2:1376|LOC129930561:129930561 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 1270720547 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000169434; RCV002515200; | Chromosome | 1:53662650..53662650 | ClinVar Allele ID | 186625 | 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.53662653del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA274312 | Gene symbol:Gene id. | CPT2:1376|LOC129930561:129930561 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 786204647 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000558197; | Chromosome | 1:53662650..53662650 | ClinVar Allele ID | 448194 | 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.53662650G>A | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA22626369 | Gene symbol:Gene id. | CPT2:1376|LOC129930561:129930561 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 1044059386 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001272279; | Chromosome | 1:53662651..53662651 | ClinVar Allele ID | 746556 | 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.53662651G>C | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | CPT2:1376|LOC129930561:129930561 | Molecular consequence | SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 1350688021 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001956469; | Chromosome | 1:53662651..53662652 | ClinVar Allele ID | 1490968 | 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.53662654 53662661dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | CPT2:1376|LOC129930561:129930561 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 2100254713 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000672860; RCV002499183; RCV002532136; RCV003453357; RCV003456125; RCV003453358; | Chromosome | 1:53662652..53662654 | ClinVar Allele ID | 541302 | Disease database name and identifier | MONDO:MONDO:0015515, MedGen:C0342790, Orphanet:157|MONDO:MONDO:0012136, MedGen:C1833518, OMIM:608836, Orphanet:228308|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 | ClinVar preferred disease name | Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, myopathic form|Encephalopathy, acute, infection-induced, susceptibility to, 4 | HGVS variant names | NC 000001.10:g.53662652 53662654del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Uncertain significance | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | CPT2:1376|LOC129930561:129930561 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 1553168847 | 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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