View genomic variant #0000000154
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.216370012_216370013insGA |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
USH2A_000037 |
MSCV |
MSCV_0000154 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; |
Reference |
- |
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 | RCV000041838; RCV001199964; RCV001387596; | Chromosome | 1:216370011..216370012 | ClinVar Allele ID | 57674 | Disease database name and identifier | MedGen:C5680250, Orphanet:96210|MedGen:C3661900|MONDO:MONDO:0010169, MedGen:C1848634, OMIM:276901, Orphanet:231178, Orphanet:886 | ClinVar preferred disease name | Rare genetic deafness|not provided|Usher syndrome type 2A | HGVS variant names | NC 000001.10:g.216370013AG[4] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA262103 | Gene symbol:Gene id. | USH2A:7399|USH2A-AS1:105372918 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 397518015 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002863199; | Chromosome | 1:216370012..216370012 | ClinVar Allele ID | 2077055 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000001.10:g.216370012G>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | USH2A:7399|USH2A-AS1:105372918 | Molecular consequence | SO:0001819|synonymous variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001074304; RCV001243846; RCV002471033; RCV003323795; | Chromosome | 1:216370013..216370013 | ClinVar Allele ID | 855990 | 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:CN517202|MONDO:MONDO:0010169, MedGen:C1848634, OMIM:276901, Orphanet:231178, Orphanet:886 | ClinVar preferred disease name | Usher syndrome|Retinal dystrophy|not provided|Usher syndrome type 2A | HGVS variant names | NC 000001.10:g.216370013A>G | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(2)|Likely pathogenic(1)|Uncertain significance(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | USH2A:7399|USH2A-AS1:105372918 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 2034852728 | 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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