View genomic variant #0000015671
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.216371854C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
USH2A_000114 |
MSCV |
MSCV_0015671 |
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 | RCV001102478; RCV001102479; RCV001295995; RCV003449562; | Chromosome | 1:216371854..216371854 | Allele frequencies from ESP | 0.00008 | ClinVar Allele ID | 863548 | Disease database name and identifier | MedGen:C3661900|Human Phenotype Ontology:HP:0000547, MONDO:MONDO:0019200, MeSH:D012174, MedGen:C0035334, OMIM:268000, OMIM:PS268000, Orphanet:791|MONDO:MONDO:0010169, MedGen:C1848634, OMIM:276901, Orphanet:231178, Orphanet:886|MONDO:MONDO:0013436, MedGen:C3151138, OMIM:613809, Orphanet:791 | ClinVar preferred disease name | not provided|Retinitis pigmentosa|Usher syndrome type 2A|Retinitis pigmentosa 39 | HGVS variant names | NC 000001.10:g.216371854C>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | USH2A:7399|USH2A-AS1:105372918 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 372993160 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000320048; RCV000356225; RCV001038154; RCV002487308; RCV003449020; | Chromosome | 1:216371854..216371854 | ClinVar Allele ID | 278954 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0013436, MedGen:C3151138, OMIM:613809, Orphanet:791|Human Phenotype Ontology:HP:0000547, MONDO:MONDO:0019200, MeSH:D012174, MedGen:C0035334, OMIM:268000, OMIM:PS268000, Orphanet:791|MONDO:MONDO:0010169, MedGen:C1848634, OMIM:276901, Orphanet:231178, Orphanet:886 | ClinVar preferred disease name | not provided|Retinitis pigmentosa 39|Retinitis pigmentosa|Usher syndrome type 2A | HGVS variant names | NC 000001.10:g.216371854C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA1395881 | Gene symbol:Gene id. | USH2A:7399|USH2A-AS1:105372918 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 372993160 | 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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