View genomic variant #0000019543
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.211507278_211507280del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPS1_000034 |
MSCV |
MSCV_0019543 |
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 | RCV000865123; RCV001585815; | Chromosome | 2:211507277..211507277 | Allele frequencies from ESP | 0.00661 | Allele frequencies from ExAC | 0.00143 | Allele frequencies from TGP | 0.00379 | ClinVar Allele ID | 686141 | Disease database name and identifier | MONDO:MONDO:0009376, MedGen:C4082171, OMIM:237300, Orphanet:147|MedGen:C3661900 | ClinVar preferred disease name | Congenital hyperammonemia, type I|not provided | HGVS variant names | NC 000002.11:g.211507277C>T | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(1)|Benign(2)|Likely benign(1) | 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 | | dbSNP ID | 79627159 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000149915; | Chromosome | 2:211507278..211507280 | ClinVar Allele ID | 172198 | 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.211507279GTG[2] | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA175109|OMIM:608307.0013 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 727502824 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001394683; | Chromosome | 2:211507278..211507278 | Allele frequencies from ESP | 0.00008 | Allele frequencies from ExAC | 0.00004 | ClinVar Allele ID | 1068988 | 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.211507278G>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 | 372027160 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002815975; | Chromosome | 2:211507278..211507278 | ClinVar Allele ID | 2062194 | 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.211507278G>C | 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 | 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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