View genomic variant #0000000169
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.216498841G>T |
Published as |
- |
GERP |
1.900 |
Segregation |
- |
DB-ID |
USH2A_000045 |
MSCV |
MSCV_0000169 |
dbSNP ID |
rs111033272 |
Frequency |
- |
Sources |
; clinVar; Ensembl; |
Reference |
15325563;18273898;15015129;15043528;15241801 |
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 | RCV000002452; RCV000412796; RCV000627017; RCV000763297; RCV000824799; RCV000984234; RCV001075725; RCV001199595; | Chromosome | 1:216498841..216498841 | Allele frequencies from ExAC | 0.00002 | ClinVar Allele ID | 17397 | Disease database name and identifier | Human Phenotype Ontology:HP:0000510, Human Phenotype Ontology:HP:0001127, Human Phenotype Ontology:HP:0007635, Human Phenotype Ontology:HP:0007645, Human Phenotype Ontology:HP:0007742, Human Phenotype Ontology:HP:0007816, Human Phenotype Ontology:HP:0007826, Human Phenotype Ontology:HP:0007927, Human Phenotype Ontology:HP:0008036, MedGen:C4551714|Human Phenotype Ontology:HP:0000580, Human Phenotype Ontology:HP:0007702, Human Phenotype Ontology:HP:0007821, Human Phenotype Ontology:HP:0007869, Human Phenotype Ontology:HP:0007961, Human Phenotype Ontology:HP:0008010, MedGen:C4551715|Human Phenotype Ontology:HP:0007698, Human Phenotype Ontology:HP:0007722, Human Phenotype Ontology:HP:0008017, MedGen:C1840457|Human Phenotype Ontology:HP:0000618, Human Phenotype Ontology:HP:0007839, MedGen:C0456909|Human Phenotype Ontology:HP:0001103, MedGen:C4520679|MONDO:MONDO:0016484, MedGen:C0339534, Orphanet:231178|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:0010169, MedGen:C1848634, OMIM:276901, Orphanet:231178, Orphanet:886|MONDO:MONDO:0013436, MedGen:C3151138, OMIM:613809, Orphanet:791|MedGen:C3661900 | ClinVar preferred disease name | Rod-cone dystrophy|Pigmentary retinopathy|Retinal pigment epithelial atrophy|Blindness|Abnormal macular morphology|Usher syndrome type 2|Rare genetic deafness|Retinal dystrophy|Usher syndrome type 2A|Retinitis pigmentosa 39|not provided | HGVS variant names | NC 000001.10:g.216498841G>T | 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:CA252237|OMIM:608400.0008 | Gene symbol:Gene id. | USH2A:7399 | Molecular consequence | SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 111033272 | 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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