View genomic variant #0000000107
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.197404300G>A |
Published as |
- |
GERP |
-3.140 |
Segregation |
- |
DB-ID |
CRB1_000005 |
MSCV |
MSCV_0000107 |
dbSNP ID |
rs62636275 |
Frequency |
- |
Sources |
; clinvar; ensembl; |
Reference |
16543197;19140180;15024725 |
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 | RCV000006093; RCV000006094; RCV000086341; RCV000648818; RCV000786009; RCV001002998; RCV001073404; RCV003450617; | Chromosome | 1:197404300..197404300 | Allele frequencies from ExAC | 0.00002 | ClinVar Allele ID | 20778 | Disease database name and identifier | .|MONDO:MONDO:0010818, MedGen:C1838647, OMIM:600105, Orphanet:791|MONDO:MONDO:0013453, MedGen:C3151202, OMIM:613835, Orphanet:65|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|MONDO:MONDO:0018998, MeSH:D057130, MedGen:C0339527, OMIM:PS204000, Orphanet:65|MONDO:MONDO:0008246, MedGen:C1868310, OMIM:172870, Orphanet:251295 | ClinVar preferred disease name | Early-onset retinal dystrophy|Retinitis pigmentosa 12|Leber congenital amaurosis 8|Retinal dystrophy|not provided|Leber congenital amaurosis|Pigmented paravenous retinochoroidal atrophy | HGVS variant names | NC 000001.10:g.197404300G>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:CA117711|OMIM:604210.0011|UniProtKB:P82279#VAR 022974 | Gene symbol:Gene id. | CRB1:23418 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant, SO:0001627|intron variant | Allele origin | | dbSNP ID | 62636275 | 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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