View genomic variant #0000015813
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.43609942G>A |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
RET_000061 |
MSCV |
MSCV_0015813 |
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 | RCV000411403; RCV000409907; RCV000526155; RCV000708754; RCV001811195; | Chromosome | 10:43609942..43609942 | Allele frequencies from ExAC | 0.00009 | Allele frequencies from TGP | 0.00020 | ClinVar Allele ID | 36261 | Disease database name and identifier | MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0019003, MedGen:C4048306, Orphanet:653|MONDO:MONDO:0008082, MeSH:D018814, MedGen:C0025269, OMIM:162300, Orphanet:247709, Orphanet:653|MONDO:MONDO:0008234, MeSH:D018813, MedGen:C0025268, OMIM:171400, Orphanet:247698, Orphanet:653 | ClinVar preferred disease name | Hereditary cancer-predisposing syndrome|not provided|Multiple endocrine neoplasia, type 2|Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia, type 2a | HGVS variant names | NC 000010.10:g.43609942G>A | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(10)|Likely benign(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA008256 | Gene symbol:Gene id. | RET:5979 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 377767407 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV003216318; | Chromosome | 10:43609942..43609942 | ClinVar Allele ID | 2467880 | 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 000010.10:g.43609942G>C | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | RET:5979 | Molecular consequence | SO:0001583|missense variant, SO:0001627|intron 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
|