View genomic variant #0000015790
Chromosome |
10 |
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.43596182G>A |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
RET_000016 |
MSCV |
MSCV_0015790 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.00193 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000312273; RCV000346124; RCV000351814; RCV000390153; RCV000410692; RCV000411730; RCV000605249; RCV002255357; RCV002059550; RCV003417968; | Chromosome | 10:43596182..43596182 | Allele frequencies from ESP | 0.00193 | Allele frequencies from ExAC | 0.00086 | Allele frequencies from TGP | 0.00339 | ClinVar Allele ID | 321368 | Disease database name and identifier | MedGen:CN239304|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019003, MedGen:C4048306, Orphanet:653|MONDO:MONDO:0008234, MeSH:D018813, MedGen:C0025268, OMIM:171400, Orphanet:247698, Orphanet:653|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017169, MedGen:C0027662, OMIM:PS131100, Orphanet:276161|MONDO:MONDO:0008082, MeSH:D018814, MedGen:C0025269, OMIM:162300, Orphanet:247709, Orphanet:653|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|MONDO:MONDO:0024519, MedGen:C1619700, OMIM:191830, Orphanet:411709 | ClinVar preferred disease name | Hirschsprung Disease, Dominant|not specified|not provided|Multiple endocrine neoplasia, type 2|Multiple endocrine neoplasia, type 2a|Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia|Multiple endocrine neoplasia, type 2b|Pheochromocytoma|Renal hypodysplasia/aplasia 1 | HGVS variant names | NC 000010.10:g.43596182G>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA043185 | Gene symbol:Gene id. | RET:5979 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 200468424 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002182100; | Chromosome | 10:43596182..43596183 | ClinVar Allele ID | 1557736 | Disease database name and identifier | MONDO:MONDO:0019003, MedGen:C4048306, Orphanet:653 | ClinVar preferred disease name | Multiple endocrine neoplasia, type 2 | HGVS variant names | NC 000010.10:g.43596187 43596198dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | RET:5979 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 1837623791 | 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
|