View genomic variant #0000000040
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.68895518G>A |
Published as |
- |
GERP |
3.140 |
Segregation |
- |
DB-ID |
RPE65_000001 |
MSCV |
MSCV_0000040 |
dbSNP ID |
rs121917745 |
Frequency |
- |
Sources |
; |
Reference |
15557452 |
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 | RCV000013999; RCV000014000; RCV000085176; RCV000132583; RCV000816506; RCV001826461; | Chromosome | 1:68895518..68895518 | Allele frequencies from ExAC | 0.00002 | ClinVar Allele ID | 28159 | Disease database name and identifier | MONDO:MONDO:0013425, MedGen:C3151086, OMIM:613794, Orphanet:791|MONDO:MONDO:0008765, MedGen:C1859844, OMIM:204100, Orphanet:65|MedGen:C3661900|Human Phenotype Ontology:HP:0000547, MONDO:MONDO:0019200, MeSH:D012174, MedGen:C0035334, OMIM:268000, OMIM:PS268000, Orphanet:791|MONDO:MONDO:0018998, MeSH:D057130, MedGen:C0339527, OMIM:PS204000, Orphanet:65 | ClinVar preferred disease name | Retinitis pigmentosa 20|Leber congenital amaurosis 2|not provided|Retinitis pigmentosa|Leber congenital amaurosis | HGVS variant names | NC 000001.10:g.68895518G>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:CA226519|OMIM:180069.0008|UniProtKB:Q16518#VAR 037619 | Gene symbol:Gene id. | RPE65:6121 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 121917745 | For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN | MONDO:MONDO:0018998, MeSH:D057130, MedGen:C0339527, OMIM:PS204000, Orphanet:65 | For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB | Leber congenital amaurosis | Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. | 982544:Likely pathogenic | 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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