View genomic variant #0000015794
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.43598056G>A |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
RET_000020 |
MSCV |
MSCV_0015794 |
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 | RCV000163807; RCV000229469; RCV000409859; RCV000411409; RCV000455164; RCV000761173; RCV001292848; RCV001575603; RCV002492650; | Chromosome | 10:43598056..43598056 | Allele frequencies from ExAC | 0.00005 | ClinVar Allele ID | 182945 | Disease database name and identifier | 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:0007958, MedGen:C1833921, OMIM:155240, Orphanet:653, Orphanet:99361|MONDO:MONDO:0007723, MedGen:C3888239, OMIM:142623, Orphanet:388|MONDO:MONDO:0008234, MeSH:D018813, MedGen:C0025268, OMIM:171400, Orphanet:247698, Orphanet:653|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019003, MedGen:C4048306, Orphanet:653|Human Phenotype Ontology:HP:0002885, MONDO:MONDO:0007959, MeSH:D008527, MedGen:C0025149, OMIM:155255, Orphanet:616 | ClinVar preferred disease name | Multiple endocrine neoplasia, type 2b|Pheochromocytoma|Familial medullary thyroid carcinoma|Hirschsprung disease, susceptibility to, 1|Multiple endocrine neoplasia, type 2a|Hereditary cancer-predisposing syndrome|not specified|not provided|Multiple endocrine neoplasia, type 2|Medulloblastoma | HGVS variant names | NC 000010.10:g.43598056G>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA009303 | Gene symbol:Gene id. | RET:5979 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 751572082 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000736273; | Chromosome | 10:43598056..43598056 | ClinVar Allele ID | 590968 | Disease database name and identifier | Human Phenotype Ontology:HP:0002029, Human Phenotype Ontology:HP:0002030, Human Phenotype Ontology:HP:0002251, Human Phenotype Ontology:HP:0002606, Human Phenotype Ontology:HP:0004391, MONDO:MONDO:0018309, MeSH:D006627, MedGen:C0019569, OMIM:PS142623, Orphanet:388 | ClinVar preferred disease name | Aganglionic megacolon | HGVS variant names | NC 000010.10:g.43598056G>C | ClinVar review status | no assertion criteria provided | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | RET:5979 | Molecular consequence | SO:0001583|missense variant | Allele origin | de-novo | dbSNP ID | 751572082 | 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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