View genomic variant #0000019556
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.211527828del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPS1_000042 |
MSCV |
MSCV_0019556 |
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 | RCV002615482; | Chromosome | 2:211527827..211527828 | ClinVar Allele ID | 1917308 | Disease database name and identifier | MONDO:MONDO:0009376, MedGen:C4082171, OMIM:237300, Orphanet:147 | ClinVar preferred disease name | Congenital hyperammonemia, type I | HGVS variant names | NC 000002.11:g.211527839dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000248100; RCV000624938; RCV001660220; RCV002500891; | Chromosome | 2:211527828..211527828 | ClinVar Allele ID | 250540 | Disease database name and identifier | MedGen:CN169374|MONDO:MONDO:0009376, MedGen:C4082171, OMIM:237300, Orphanet:147|MONDO:MONDO:0014151, MedGen:C3714958, OMIM:615371|MedGen:CN517202 | ClinVar preferred disease name | not specified|Congenital hyperammonemia, type I|Pulmonary hypertension, neonatal, susceptibility to|not provided | HGVS variant names | NC 000002.11:g.211527839del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA2087122 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 397703682 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000493048; RCV000624937; RCV001701021; | Chromosome | 2:211527828..211527829 | ClinVar Allele ID | 421361 | Disease database name and identifier | MONDO:MONDO:0009376, MedGen:C4082171, OMIM:237300, Orphanet:147|MedGen:CN169374|MedGen:C3661900 | ClinVar preferred disease name | Congenital hyperammonemia, type I|not specified|not provided | HGVS variant names | NC 000002.11:g.211527838 211527839del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA2087121 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 397703682 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002117378; | Chromosome | 2:211527828..211527828 | ClinVar Allele ID | 1633552 | Disease database name and identifier | MONDO:MONDO:0009376, MedGen:C4082171, OMIM:237300, Orphanet:147 | ClinVar preferred disease name | Congenital hyperammonemia, type I | HGVS variant names | NC 000002.11:g.211527828T>G | 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. | CPS1:1373 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 77561958 | 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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