View genomic variant #0000019498
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.211441135_211441136insTGGGAA |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPS1_000095 |
MSCV |
MSCV_0019498 |
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 | RCV002715875; | Chromosome | 2:211441134..211441134 | ClinVar Allele ID | 2017095 | 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.211441134A>G | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | 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 | RCV001138059; | Chromosome | 2:211441135..211441135 | Allele frequencies from ExAC | 0.00007 | Allele frequencies from TGP | 0.00020 | ClinVar Allele ID | 883643 | 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.211441135T>C | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | 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 | dbSNP ID | 186877621 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000529677; RCV003470799; | Chromosome | 2:211441135..211441136 | ClinVar Allele ID | 450502 | 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.211441139 211441144dup | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Variant clinical sources reported | ClinGen:CA539123524 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001821|inframe insertion | Allele origin | germline | dbSNP ID | 1288123680 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000690642; | Chromosome | 2:211441136..211441136 | ClinVar Allele ID | 560809 | 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.211441136T>G | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | 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 | dbSNP ID | 1559084624 | 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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