View genomic variant #0000002822
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.203332348T>G |
Published as |
- |
GERP |
1.250 |
Segregation |
- |
DB-ID |
BMPR2_000014 |
MSCV |
MSCV_0002822 |
dbSNP ID |
rs137852743 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
10973254 |
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 | RCV000009344; RCV001823865; RCV001851760; | Chromosome | 2:203332348..203332348 | ClinVar Allele ID | 23838 | Disease database name and identifier | Human Phenotype Ontology:HP:0002092, Human Phenotype Ontology:HP:0006546, MONDO:MONDO:0015924, MeSH:D000081029, MedGen:C2973725, Orphanet:182090|MONDO:MONDO:0008347, MedGen:C5679820, Orphanet:422|MONDO:MONDO:0001999, MedGen:C0152171|MONDO:MONDO:0024533, MedGen:C4552070, OMIM:178600, Orphanet:422 | ClinVar preferred disease name | Pulmonary arterial hypertension|Idiopathic and/or familial pulmonary arterial hypertension|Primary pulmonary hypertension|Pulmonary hypertension, primary, 1 | HGVS variant names | NC 000002.11:g.203332348T>G | 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:CA278075|OMIM:600799.0005|UniProtKB:Q13873#VAR 013672 | Gene symbol:Gene id. | BMPR2:659 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 137852743 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000488625; | Chromosome | 2:203332348..203332349 | ClinVar Allele ID | 414429 | Disease database name and identifier | MONDO:MONDO:0024533, MedGen:C4552070, OMIM:178600, Orphanet:422 | ClinVar preferred disease name | Pulmonary hypertension, primary, 1 | HGVS variant names | NC 000002.11:g.203332348 203332349delinsAG | ClinVar review status | no assertion criteria provided | Clinical Significance | Pathogenic | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Variant clinical sources reported | ClinGen:CA645294012 | Gene symbol:Gene id. | BMPR2:659 | Molecular consequence | SO:0001587|nonsense | Allele origin | germline | dbSNP ID | 1085307218 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000488816; | Chromosome | 2:203332349..203332349 | ClinVar Allele ID | 414155 | Disease database name and identifier | MONDO:MONDO:0024533, MedGen:C4552070, OMIM:178600, Orphanet:422 | ClinVar preferred disease name | Pulmonary hypertension, primary, 1 | HGVS variant names | NC 000002.11:g.203332349del | ClinVar review status | no assertion criteria provided | Clinical Significance | Pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA645294013|OMIM:600799.0004 | Gene symbol:Gene id. | BMPR2:659 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 1085307219 | 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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