View genomic variant #0000000108
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.197411414G>T |
Published as |
- |
GERP |
5.600 |
Segregation |
- |
DB-ID |
CRB1_000006 |
MSCV |
MSCV_0000108 |
dbSNP ID |
rs137853136 |
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 | RCV000778957; RCV001073728; RCV001201620; RCV001825517; RCV003323720; | Chromosome | 1:197411414..197411414 | Allele frequencies from ExAC | 0.00002 | ClinVar Allele ID | 619983 | Disease database name and identifier | MONDO:MONDO:0013453, MedGen:C3151202, OMIM:613835, Orphanet:65|MONDO:MONDO:0010818, MedGen:C1838647, OMIM:600105, Orphanet:791|MONDO:MONDO:0018998, MeSH:D057130, MedGen:C0339527, OMIM:PS204000, Orphanet:65|.|MedGen:CN169374|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 | ClinVar preferred disease name | Leber congenital amaurosis 8|Retinitis pigmentosa 12|Leber congenital amaurosis|CRB1-Related Disorders|not specified|Retinal dystrophy | HGVS variant names | NC 000001.10:g.197411414G>A | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(1)|Uncertain significance(3) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | CRB1:23418 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 137853136 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000006089; | Chromosome | 1:197411414..197411414 | ClinVar Allele ID | 20774 | Disease database name and identifier | MONDO:MONDO:0013453, MedGen:C3151202, OMIM:613835, Orphanet:65 | ClinVar preferred disease name | Leber congenital amaurosis 8 | HGVS variant names | NC 000001.10:g.197411414G>T | ClinVar review status | no assertion criteria provided | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA117708|OMIM:604210.0007 | Gene symbol:Gene id. | CRB1:23418 | Molecular consequence | SO:0001587|nonsense, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 137853136 | 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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