View genomic variant #0000015695
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Probably does not affect function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.216496947G>A |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
USH2A_000099 |
MSCV |
MSCV_0015695 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.29548 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000041754; RCV000296291; RCV000349320; RCV001515003; | Chromosome | 1:216496947..216496947 | Allele frequencies from ESP | 0.29548 | Allele frequencies from ExAC | 0.25207 | Allele frequencies from TGP | 0.26298 | ClinVar Allele ID | 57593 | Disease database name and identifier | Human Phenotype Ontology:HP:0000547, MONDO:MONDO:0019200, MeSH:D012174, MedGen:C0035334, OMIM:268000, OMIM:PS268000, Orphanet:791|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010169, MedGen:C1848634, OMIM:276901, Orphanet:231178, Orphanet:886 | ClinVar preferred disease name | Retinitis pigmentosa|not specified|not provided|Usher syndrome type 2A | HGVS variant names | NC 000001.10:g.216496947G>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA143340 | Gene symbol:Gene id. | USH2A:7399 | Molecular consequence | SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 1805050 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001074076; | Chromosome | 1:216496947..216496979 | ClinVar Allele ID | 856008 | Disease database name and identifier | 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 | Retinal dystrophy | HGVS variant names | NC 000001.10:g.216496947 216496979delinsAGT | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Gene symbol:Gene id. | USH2A:7399 | Molecular consequence | SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 2037662587 | 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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