View genomic variant #0000000030
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
del |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.53676584_53676585del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPT2_000003 See all 2 reported entries |
MSCV |
MSCV_0000030 |
dbSNP ID |
rs397509431 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
10090476;11477613;12410208 |
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 | RCV000185837; RCV000202516; RCV000576522; RCV002225079; RCV002490673; RCV003474675; | Chromosome | 1:53676584..53676585 | ClinVar Allele ID | 98339 | Disease database name and identifier | MONDO:MONDO:0015515, MedGen:C0342790, Orphanet:157|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|MedGen:C3661900 | ClinVar preferred disease name | Carnitine palmitoyltransferase II deficiency|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|not provided | HGVS variant names | NC 000001.10:g.53676585 53676586del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA266757|Genetic Testing Registry (GTR):GTR000604056|OMIM:600650.0009 | Gene symbol:Gene id. | CPT2:1376 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 397509431 | For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN | MONDO:MONDO:0009704, MedGen:C1833508, OMIM:255110, Orphanet:157, Orphanet:228302|MONDO:MONDO:0015515, MedGen:C0342790, Orphanet:157 | For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB | Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyltransferase II deficiency | Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. | 60702:Pathogenic | 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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