View genomic variant #0000000172
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.216500961G>A |
Published as |
- |
GERP |
4.850 |
Segregation |
- |
DB-ID |
USH2A_000027 |
MSCV |
MSCV_0000172 |
dbSNP ID |
rs397518036 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
22004887 |
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 | RCV000041921; RCV000669898; RCV001831706; RCV001852861; RCV003389452; RCV003450899; | Chromosome | 1:216500961..216500961 | ClinVar Allele ID | 57757 | Disease database name and identifier | MONDO:MONDO:0019501, MeSH:D052245, MedGen:C0271097, OMIM:PS276900, Orphanet:886|MedGen:C5680250, Orphanet:96210|MONDO:MONDO:0013436, MedGen:C3151138, OMIM:613809, Orphanet:791|MONDO:MONDO:0010169, MedGen:C1848634, OMIM:276901, Orphanet:231178, Orphanet:886|MedGen:C3661900 | ClinVar preferred disease name | Usher syndrome|Rare genetic deafness|Retinitis pigmentosa 39|Usher syndrome type 2A|not provided | HGVS variant names | NC 000001.10:g.216500961G>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:CA262118 | Gene symbol:Gene id. | USH2A:7399 | Molecular consequence | SO:0001587|nonsense | Allele origin | germline | dbSNP ID | 397518036 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000504853; RCV001360100; RCV002470889; | Chromosome | 1:216500961..216500961 | ClinVar Allele ID | 431609 | Disease database name and identifier | MONDO:MONDO:0010169, MedGen:C1848634, OMIM:276901, Orphanet:231178, Orphanet:886|MedGen:C3661900|MONDO:MONDO:0019501, MeSH:D052245, MedGen:C0271097, OMIM:PS276900, Orphanet:886 | ClinVar preferred disease name | Usher syndrome type 2A|not provided|Usher syndrome | HGVS variant names | NC 000001.10:g.216500961G>C | 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:CA1396686 | Gene symbol:Gene id. | USH2A:7399 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 397518036 | 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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