View genomic variant #0000000164
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.216495263A>G |
Published as |
- |
GERP |
5.650 |
Segregation |
- |
DB-ID |
USH2A_000060 |
MSCV |
MSCV_0000164 |
dbSNP ID |
rs111033273 |
Frequency |
- |
Sources |
; clinVar; Ensembl; |
Reference |
15043528;10909849 |
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 | RCV000041794; RCV000413438; RCV000678646; RCV000787727; RCV000984314; RCV001074602; RCV002483034; | Chromosome | 1:216495263..216495263 | Allele frequencies from ExAC | 0.00001 | ClinVar Allele ID | 57633 | Disease database name and identifier | MedGen:C5680250, Orphanet:96210|Human Phenotype Ontology:HP:0000556, Human Phenotype Ontology:HP:0007736, Human Phenotype Ontology:HP:0007910, Human Phenotype Ontology:HP:0007974, Human Phenotype Ontology:HP:0007982, MONDO:MONDO:0019118, MeSH:D058499, MedGen:C0854723, Orphanet:71862|MONDO:MONDO:0013436, MedGen:C3151138, OMIM:613809, Orphanet:791|MONDO:MONDO:0010169, MedGen:C1848634, OMIM:276901, Orphanet:231178, Orphanet:886|MedGen:C3661900|Human Phenotype Ontology:HP:0000547, MONDO:MONDO:0019200, MeSH:D012174, MedGen:C0035334, OMIM:268000, OMIM:PS268000, Orphanet:791 | ClinVar preferred disease name | Rare genetic deafness|Retinal dystrophy|Retinitis pigmentosa 39|Usher syndrome type 2A|not provided|Retinitis pigmentosa | HGVS variant names | NC 000001.10:g.216495263A>G | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA262095|UniProtKB:O75445#VAR 025769 | Gene symbol:Gene id. | USH2A:7399 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 111033273 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001724840; RCV002543875; | Chromosome | 1:216495263..216495263 | ClinVar Allele ID | 1286925 | 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 | ClinVar preferred disease name | not provided|Retinitis pigmentosa | HGVS variant names | NC 000001.10:g.216495263A>T | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(1)|Uncertain significance(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | USH2A:7399 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 111033273 | 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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