View genomic variant #0000025811
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.211454913del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPS1_000158 |
MSCV |
- |
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 |
Lishuang Shen |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV003155635; RCV003466025; | Chromosome | 2:211454912..211454912 | ClinVar Allele ID | 2418669 | Disease database name and identifier | MONDO:MONDO:0014151, MedGen:C3714958, OMIM:615371|MONDO:MONDO:0009376, MedGen:C4082171, OMIM:237300, Orphanet:147 | ClinVar preferred disease name | Pulmonary hypertension, neonatal, susceptibility to|Congenital hyperammonemia, type I | HGVS variant names | NC 000002.11:g.211454912C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000674756; | Chromosome | 2:211454913..211454913 | ClinVar Allele ID | 541825 | 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.211454916del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001589|frameshift variant, SO:0001619|non-coding transcript variant | Allele origin | unknown | dbSNP ID | 1553510944 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001476078; | Chromosome | 2:211454913..211454913 | ClinVar Allele ID | 1112154 | 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.211454913G>A | 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:0001619|non-coding transcript variant, SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 1174421173 | 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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