View genomic variant #0000019533
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.211476856C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPS1_000025 |
MSCV |
MSCV_0019533 |
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 | RCV000185819; | Chromosome | 2:211476856..211476856 | ClinVar Allele ID | 199992 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000002.11:g.211476856C>A | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA312397|UniProtKB:P31327#VAR 066147 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 201716417 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001974483; | Chromosome | 2:211476856..211476857 | ClinVar Allele ID | 1500665 | 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.211476857dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001589|frameshift variant, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 2105859007 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000813104; RCV002495136; RCV003467464; | Chromosome | 2:211476856..211476856 | ClinVar Allele ID | 629357 | Disease database name and identifier | MONDO:MONDO:0009376, MedGen:C4082171, OMIM:237300, Orphanet:147|MONDO:MONDO:0014151, MedGen:C3714958, OMIM:615371 | ClinVar preferred disease name | Congenital hyperammonemia, type I|Pulmonary hypertension, neonatal, susceptibility to | HGVS variant names | NC 000002.11:g.211476856C>G | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/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 | dbSNP ID | 201716417 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000552829; RCV002298663; | Chromosome | 2:211476856..211476856 | ClinVar Allele ID | 450459 | Disease database name and identifier | MedGen:CN169374|MONDO:MONDO:0009376, MedGen:C4082171, OMIM:237300, Orphanet:147 | ClinVar preferred disease name | not specified|Congenital hyperammonemia, type I | HGVS variant names | NC 000002.11:g.211476856C>T | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(1)|Uncertain significance(2) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA2086634 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 201716417 | 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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