View genomic variant #0000019788
Chromosome |
22 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.30035081_30035086del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
NF2_000232 |
MSCV |
MSCV_0019788 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
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 | RCV000632642; RCV001015508; | Chromosome | 22:30035081..30035086 | Allele frequencies from ExAC | 0.00002 | ClinVar Allele ID | 534151 | Disease database name and identifier | MONDO:MONDO:0007039, MedGen:C0027832, OMIM:101000, Orphanet:637|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162 | ClinVar preferred disease name | Neurofibromatosis, type 2|Hereditary cancer-predisposing syndrome | HGVS variant names | NC 000022.10:g.30035081 30035086del | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(2)|Likely benign(1) | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA030457 | Gene symbol:Gene id. | NF2:4771 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001627|intron variant, SO:0001822|inframe deletion | Allele origin | germline | dbSNP ID | 777858863 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002219456; | Chromosome | 22:30035081..30035081 | ClinVar Allele ID | 1625339 | Disease database name and identifier | MONDO:MONDO:0007039, MedGen:C0027832, OMIM:101000, Orphanet:637 | ClinVar preferred disease name | Neurofibromatosis, type 2 | HGVS variant names | NC 000022.10:g.30035081A>C | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | NF2:4771 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001627|intron variant, SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 2146869518 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002459994; | Chromosome | 22:30035081..30035081 | ClinVar Allele ID | 1848106 | Disease database name and identifier | MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162 | ClinVar preferred disease name | Hereditary cancer-predisposing syndrome | HGVS variant names | NC 000022.10:g.30035081A>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | NF2:4771 | Molecular consequence | SO:0001623|5 prime UTR variant, SO:0001627|intron variant, SO:0001819|synonymous variant | Allele origin | germline | 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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