View genomic variant #0000015313
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.53676389_53676390insA |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPT2_000024 |
MSCV |
MSCV_0015313 |
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 | RCV000409430; RCV000412442; RCV000410982; RCV003475987; | Chromosome | 1:53676389..53676390 | ClinVar Allele ID | 357118 | Disease database name and identifier | MONDO:MONDO:0012136, MedGen:C1833518, OMIM:608836, Orphanet:228308|MONDO:MONDO:0009704, MedGen:C1833508, OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0013633, MedGen:C3280160, OMIM:614212, Orphanet:263524|MONDO:MONDO:0010914, MedGen:C1833511, OMIM:600649, Orphanet:228305 | ClinVar preferred disease name | Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, severe infantile form | HGVS variant names | NC 000001.10:g.53676392dup | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Likely pathogenic | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Variant clinical sources reported | ClinGen:CA16040764 | Gene symbol:Gene id. | CPT2:1376 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | unknown | dbSNP ID | 1057517515 | 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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