View genomic variant #0000015322
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.53676703_53676706del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPT2_000030 |
MSCV |
MSCV_0015322 |
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 | RCV000409126; RCV000410673; RCV000411622; | Chromosome | 1:53676703..53676706 | ClinVar Allele ID | 357122 | Disease database name and identifier | 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 | ClinVar preferred disease name | Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, myopathic form | HGVS variant names | NC 000001.10:g.53676705 53676708del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA16040767 | Gene symbol:Gene id. | CPT2:1376 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | unknown | dbSNP ID | 1057517507 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000666834; | Chromosome | 1:53676704..53676706 | ClinVar Allele ID | 541217 | Disease database name and identifier | MONDO:MONDO:0010914, MedGen:C1833511, OMIM:600649, Orphanet:228305 | ClinVar preferred disease name | Carnitine palmitoyl transferase II deficiency, severe infantile form | HGVS variant names | NC 000001.10:g.53676706 53676708del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | CPT2:1376 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | unknown | dbSNP ID | 1553169768 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000009528; RCV001851765; | Chromosome | 1:53676706..53676706 | ClinVar Allele ID | 24005 | Disease database name and identifier | MONDO:MONDO:0015515, MedGen:C0342790, Orphanet:157|MONDO:MONDO:0009704, MedGen:C1833508, OMIM:255110, Orphanet:157, Orphanet:228302 | ClinVar preferred disease name | Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, myopathic form | HGVS variant names | NC 000001.10:g.53676706G>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA254613|OMIM:600650.0015 | Gene symbol:Gene id. | CPT2:1376 | Molecular consequence | SO:0001587|nonsense | Allele origin | germline | dbSNP ID | 74315299 | 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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