View genomic variant #0000000165
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.216497582C>A |
Published as |
- |
GERP |
5.420 |
Segregation |
- |
DB-ID |
USH2A_000061 |
MSCV |
MSCV_0000165 |
dbSNP ID |
rs121912600 |
Frequency |
- |
Sources |
; clinVar; Ensembl; |
Reference |
10729113;15241801;15015129;15325563 |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
8.0E-5 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000002453; RCV000224697; RCV000504809; RCV000778222; RCV000984315; RCV000824795; RCV001074823; RCV002482817; | Chromosome | 1:216497582..216497582 | Allele frequencies from ExAC | 0.00005 | ClinVar Allele ID | 17398 | Disease database name and identifier | MONDO:MONDO:0019501, MeSH:D052245, MedGen:C0271097, OMIM:PS276900, Orphanet:886|MedGen:C5680250, Orphanet:96210|MedGen:CN239332|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|MedGen:C3661900|MONDO:MONDO:0010169, MedGen:C1848634, OMIM:276901, Orphanet:231178, Orphanet:886|MONDO:MONDO:0013436, MedGen:C3151138, OMIM:613809, Orphanet:791 | ClinVar preferred disease name | Usher syndrome|Rare genetic deafness|USH2A-Related Disorders|Retinal dystrophy|not provided|Usher syndrome type 2A|Retinitis pigmentosa 39 | HGVS variant names | NC 000001.10:g.216497582C>A | 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:CA252239|OMIM:608400.0009|UniProtKB:O75445#VAR 025767 | Gene symbol:Gene id. | USH2A:7399 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 121912600 | 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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