View genomic variant #0000000161
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.216420460C>A |
Published as |
- |
GERP |
5.790 |
Segregation |
- |
DB-ID |
USH2A_000019 |
MSCV |
MSCV_0000161 |
dbSNP ID |
rs80338902 |
Frequency |
- |
Sources |
; clinVar; Ensembl; |
Reference |
10909849;16098008;17085681;17405132;18641288;10775529;21151602;12525556;14970843;15325563;{PMID |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.00154 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000002450; RCV000032523; RCV000174625; RCV000239000; RCV000404009; RCV000504814; RCV000505146; RCV000623925; RCV001257905; RCV001535506; RCV001813938; RCV002251859; RCV003398419; | Chromosome | 1:216420460..216420460 | Allele frequencies from ExAC | 0.00078 | Allele frequencies from TGP | 0.00020 | ClinVar Allele ID | 17395 | Disease database name and identifier | MedGen:CN239332|MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0019501, MeSH:D052245, MedGen:C0271097, OMIM:PS276900, Orphanet:886|.|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|MedGen:C0339526|Human Phenotype Ontology:HP:0000547, MONDO:MONDO:0019200, MeSH:D012174, MedGen:C0035334, OMIM:268000, OMIM:PS268000, Orphanet:791|Human Phenotype Ontology:HP:0000598, MONDO:MONDO:0007500, MedGen:C0266589, OMIM:128600|. | ClinVar preferred disease name | USH2A-Related Disorders|Inborn genetic diseases|Usher syndrome|USH2A-related condition|Retinal dystrophy|Usher syndrome type 2A|Retinitis pigmentosa 39|not provided|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa|Abnormality of the ear|See cases | HGVS variant names | NC 000001.10:g.216420460C>A | ClinVar review status | reviewed by expert panel | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA252233|OMIM:608400.0006|UniProtKB:O75445#VAR 025775 | Gene symbol:Gene id. | USH2A:7399 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 80338902 | 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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