View genomic variant #0000019541
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.211503927_211503939del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPS1_000033 |
MSCV |
MSCV_0019541 |
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 | RCV000589986; RCV003465325; | Chromosome | 2:211503927..211503939 | ClinVar Allele ID | 486956 | 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.211503927 211503939del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA539123463 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001589|frameshift variant, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 1375304341 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV003468531; | Chromosome | 2:211503928..211503932 | ClinVar Allele ID | 2837150 | Disease database name and identifier | MONDO:MONDO:0014151, MedGen:C3714958, OMIM:615371 | ClinVar preferred disease name | Pulmonary hypertension, neonatal, susceptibility to | HGVS variant names | NC 000002.11:g.211503929 211503933del | 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 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001340283; | Chromosome | 2:211503928..211503928 | ClinVar Allele ID | 1024093 | 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.211503928T>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 | 1700131234 | 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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