View genomic variant #0000023486
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.19377757_19377758del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
PDHA1_000023 |
MSCV |
MSCV_0023486 |
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 | RCV003330307; | Chromosome | X:19377756..19377757 | ClinVar Allele ID | 2748657 | Disease database name and identifier | MONDO:MONDO:0010717, MedGen:C1839413, OMIM:312170, Orphanet:79243 | ClinVar preferred disease name | Pyruvate dehydrogenase E1-alpha deficiency | HGVS variant names | NC 000023.10:g.19377757 19377762dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | PDHA1:5160 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | maternal | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV003110143; | Chromosome | X:19377756..19377757 | ClinVar Allele ID | 2401860 | Disease database name and identifier | MONDO:MONDO:0010717, MedGen:C1839413, OMIM:312170, Orphanet:79243 | ClinVar preferred disease name | Pyruvate dehydrogenase E1-alpha deficiency | HGVS variant names | NC 000023.10:g.19377756 19377757insCAGTGGATCAAGTTTA | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | Insertion | Sequence Ontology for variant type | SO:0000667 | Gene symbol:Gene id. | PDHA1:5160 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | unknown | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000011622; | Chromosome | X:19377757..19377758 | ClinVar Allele ID | 25914 | Disease database name and identifier | MONDO:MONDO:0010717, MedGen:C1839413, OMIM:312170, Orphanet:79243 | ClinVar preferred disease name | Pyruvate dehydrogenase E1-alpha deficiency | HGVS variant names | NC 000023.10:g.19377757 19377758del | ClinVar review status | no assertion criteria provided | Clinical Significance | Pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA121209|OMIM:300502.0005 | Gene symbol:Gene id. | PDHA1:5160 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 606231186 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000200467; RCV001079335; RCV002363013; | Chromosome | X:19377757..19377757 | Allele frequencies from ESP | 0.00009 | Allele frequencies from ExAC | 0.00006 | Allele frequencies from TGP | 0.00053 | ClinVar Allele ID | 212020 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010717, MedGen:C1839413, OMIM:312170, Orphanet:79243 | ClinVar preferred disease name | Inborn genetic diseases|not provided|Pyruvate dehydrogenase E1-alpha deficiency | HGVS variant names | NC 000023.10:g.19377757A>C | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(1)|Likely benign(2) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA325044 | Gene symbol:Gene id. | PDHA1:5160 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 201156613 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000011618; | Chromosome | X:19377758..19377761 | ClinVar Allele ID | 25910 | Disease database name and identifier | MONDO:MONDO:0010717, MedGen:C1839413, OMIM:312170, Orphanet:79243 | ClinVar preferred disease name | Pyruvate dehydrogenase E1-alpha deficiency | HGVS variant names | NC 000023.10:g.19377761CAGT[1] | ClinVar review status | no assertion criteria provided | Clinical Significance | Pathogenic | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA121203|OMIM:300502.0001 | Gene symbol:Gene id. | PDHA1:5160 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 606231184 | 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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