View genomic variant #0000001679
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.197396689C>T |
Published as |
- |
GERP |
4.850 |
Segregation |
- |
DB-ID |
CRB1_000007 |
MSCV |
MSCV_0001679 |
dbSNP ID |
rs28939720 |
Frequency |
- |
Sources |
; clinvar; ensembl; |
Reference |
10508521 |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
8.0E-5 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV001250643; RCV001879784; | Chromosome | 1:197396689..197396689 | ClinVar Allele ID | 962205 | Disease database name and identifier | MONDO:MONDO:0013453, MedGen:C3151202, OMIM:613835, Orphanet:65|MONDO:MONDO:0010818, MedGen:C1838647, OMIM:600105, Orphanet:791 | ClinVar preferred disease name | Leber congenital amaurosis 8|Retinitis pigmentosa 12 | HGVS variant names | NC 000001.10:g.197396689C>A | 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 | 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 | 28939720 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001250602; | Chromosome | 1:197396689..197396689 | ClinVar Allele ID | 962206 | 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.197396689C>G | ClinVar review status | no assertion criteria provided | Clinical Significance | Likely pathogenic | 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, SO:0001627|intron variant | Allele origin | inherited | dbSNP ID | 28939720 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000006087; RCV000086315; RCV000787576; RCV000809110; RCV001074789; RCV001196030; RCV001250601; RCV001257864; RCV001826422; RCV002496280; | Chromosome | 1:197396689..197396689 | Allele frequencies from ExAC | 0.00008 | ClinVar Allele ID | 20772 | 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|MONDO:MONDO:0008246, MedGen:C1868310, OMIM:172870, Orphanet:251295|MedGen:C3661900|MONDO:MONDO:0018998, MeSH:D057130, MedGen:C0339527, OMIM:PS204000, Orphanet:65|MedGen:C0339526|Human Phenotype Ontology:HP:0000547, MONDO:MONDO:0019200, MeSH:D012174, MedGen:C0035334, OMIM:268000, OMIM:PS268000, Orphanet:791 | ClinVar preferred disease name | Retinitis pigmentosa 12|Leber congenital amaurosis 8|Retinal dystrophy|Pigmented paravenous retinochoroidal atrophy|not provided|Leber congenital amaurosis|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa | HGVS variant names | NC 000001.10:g.197396689C>T | 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:CA228003|OMIM:604210.0005|UniProtKB:P82279#VAR 011643 | 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 | 28939720 | 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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