View genomic variant #0000000170
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Type |
ins |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.216498866_216498867insTGGC |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
USH2A_000046 |
MSCV |
MSCV_0000170 |
dbSNP ID |
rs397518043 |
Frequency |
- |
Sources |
; |
Reference |
10729113;10909849;15025721;18641288;19683999;14970843;18273898;15241801;15325563;11311042 |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.00032 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000041941; RCV000411255; RCV000505107; RCV000505018; RCV000790675; RCV000824800; RCV001074427; RCV002226452; | Chromosome | 1:216498866..216498867 | ClinVar Allele ID | 57777 | Disease database name and identifier | 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|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|Human Phenotype Ontology:HP:0000546, Human Phenotype Ontology:HP:0007632, Human Phenotype Ontology:HP:0007863, MONDO:MONDO:0004580, MeSH:D012162, MedGen:C0035304|MedGen:C5680250, Orphanet:96210|MONDO:MONDO:0013436, MedGen:C3151138, OMIM:613809, Orphanet:791 | ClinVar preferred disease name | Usher syndrome|Retinal dystrophy|not provided|Retinitis pigmentosa|Usher syndrome type 2A|Retinal degeneration|Rare genetic deafness|Retinitis pigmentosa 39 | HGVS variant names | NC 000001.10:g.216498869 216498872dup | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Variant clinical sources reported | ClinGen:CA262127 | Gene symbol:Gene id. | USH2A:7399 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | | dbSNP ID | 397518043 | 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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