View genomic variant #0000019513
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Probably does not affect function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.211456637A>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
CPS1_000071 |
MSCV |
MSCV_0019513 |
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 | RCV000116829; RCV000364698; RCV000589181; RCV002490791; | Chromosome | 2:211456637..211456637 | Allele frequencies from ESP | 0.59173 | ClinVar Allele ID | 134297 | Disease database name and identifier | MONDO:MONDO:0009376, MedGen:C4082171, OMIM:237300, Orphanet:147|MONDO:MONDO:0014151, MedGen:C3714958, OMIM:615371|MedGen:CN169374|MedGen:C3661900 | ClinVar preferred disease name | Congenital hyperammonemia, type I|Pulmonary hypertension, neonatal, susceptibility to|not specified|not provided | HGVS variant names | NC 000002.11:g.211456637A>G | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA288777|UniProtKB:P31327#VAR 006834 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 1047883 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000275942; RCV000396067; | Chromosome | 2:211456637..211456637 | Allele frequencies from TGP | 0.01657 | ClinVar Allele ID | 265568 | 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.211456637A>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA2086224|UniProtKB:P31327#VAR 061752 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 1047883 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000321490; RCV000509533; RCV002494816; RCV003243036; | Chromosome | 2:211456637..211456639 | ClinVar Allele ID | 265713 | Disease database name and identifier | MONDO:MONDO:0014151, MedGen:C3714958, OMIM:615371|MONDO:MONDO:0009376, MedGen:C4082171, OMIM:237300, Orphanet:147|MedGen:CN169374|MedGen:CN517202 | ClinVar preferred disease name | Pulmonary hypertension, neonatal, susceptibility to|Congenital hyperammonemia, type I|not specified|not provided | HGVS variant names | NC 000002.11:g.211456637 211456639delinsGCT | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Variant clinical sources reported | ClinGen:CA10603892 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | | dbSNP ID | 386654705 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000271134; | Chromosome | 2:211456637..211456639 | ClinVar Allele ID | 265712 | Disease database name and identifier | MedGen:CN169374 | ClinVar preferred disease name | not specified | HGVS variant names | NC 000002.11:g.211456637 211456639delinsTCT | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Variant clinical sources reported | ClinGen:CA10603891 | Gene symbol:Gene id. | CPS1:1373 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 386654705 | 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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