View genomic variant #0000000105
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.197404292T>G |
Published as |
- |
GERP |
5.700 |
Segregation |
- |
DB-ID |
CRB1_000004 |
MSCV |
MSCV_0000105 |
dbSNP ID |
rs62635659 |
Frequency |
- |
Sources |
; clinvar; ensembl; |
Reference |
11389483 |
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 | RCV000086339; RCV001857424; RCV002247492; RCV003453026; RCV003453027; | Chromosome | 1:197404292..197404292 | ClinVar Allele ID | 105785 | Disease database name and identifier | MONDO:MONDO:0013453, MedGen:C3151202, OMIM:613835, Orphanet:65|MONDO:MONDO:0010818, MedGen:C1838647, OMIM:600105, Orphanet:791|MedGen:C3661900|MONDO:MONDO:0008246, MedGen:C1868310, OMIM:172870, Orphanet:251295 | ClinVar preferred disease name | Leber congenital amaurosis 8|Retinitis pigmentosa 12|not provided|Pigmented paravenous retinochoroidal atrophy | HGVS variant names | NC 000001.10:g.197404292T>C | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA228035|UniProtKB:P82279#VAR 022973 | Gene symbol:Gene id. | CRB1:23418 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant, SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 62635659 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000006088; RCV000086340; RCV002490326; | Chromosome | 1:197404292..197404292 | ClinVar Allele ID | 20773 | Disease database name and identifier | MONDO:MONDO:0013453, MedGen:C3151202, OMIM:613835, Orphanet:65|MONDO:MONDO:0008246, MedGen:C1868310, OMIM:172870, Orphanet:251295|MONDO:MONDO:0010818, MedGen:C1838647, OMIM:600105, Orphanet:791|MedGen:CN517202 | ClinVar preferred disease name | Leber congenital amaurosis 8|Pigmented paravenous retinochoroidal atrophy|Retinitis pigmentosa 12|not provided | HGVS variant names | NC 000001.10:g.197404292T>G | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA117707|OMIM:604210.0006|UniProtKB:P82279#VAR 011648 | Gene symbol:Gene id. | CRB1:23418 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant, SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 62635659 | 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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