View genomic variant #0000000200
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.43617416T>C |
Published as |
- |
GERP |
5.430 |
Segregation |
- |
DB-ID |
RET_000007 |
MSCV |
MSCV_0000200 |
dbSNP ID |
rs74799832 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
15531714;18252215;7824936;9620546;23757202;7977365;2660074;3078962;7536460;7911697;{PMID:7906417:79064 |
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 | RCV000014941; RCV000014942; RCV000014943; RCV000082054; RCV000175096; RCV000161926; RCV000415312; RCV000425499; RCV000428538; RCV000417859; RCV000444529; RCV000999916; RCV001266480; RCV001292662; RCV001542764; RCV002255998; | Chromosome | 10:43617416..43617416 | ClinVar Allele ID | 28958 | Disease database name and identifier | Human Phenotype Ontology:HP:0100031, MONDO:MONDO:0015074, MeSH:D013964, MedGen:C0040136, Orphanet:100087|MeSH:D030342, MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002865, MONDO:MONDO:0015277, MeSH:C536914, MedGen:C0238462, Orphanet:1332|MedGen:C3661900|MONDO:MONDO:0019003, MedGen:C4048306, Orphanet:653|MONDO:MONDO:0007540, MeSH:D018761, MedGen:C0025267, OMIM:131100, Orphanet:652|MedGen:C1833929|MONDO:MONDO:0007723, MedGen:C3888239, OMIM:142623, Orphanet:388|MONDO:MONDO:0008234, MeSH:D018813, MedGen:C0025268, OMIM:171400, Orphanet:247698, Orphanet:653|MONDO:MONDO:0008082, MeSH:D018814, MedGen:C0025269, OMIM:162300, Orphanet:247709, Orphanet:653|MONDO:MONDO:0007958, MedGen:C1833921, OMIM:155240, Orphanet:653, Orphanet:99361|MONDO:MONDO:0012552, MedGen:C1970712, OMIM:610755, Orphanet:276152|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|Human Phenotype Ontology:HP:0001636, MONDO:MONDO:0008542, MedGen:C0039685, OMIM:187500, Orphanet:3303|Human Phenotype Ontology:HP:0000316, Human Phenotype Ontology:HP:0000578, Human Phenotype Ontology:HP:0002001, Human Phenotype Ontology:HP:0004657, Human Phenotype Ontology:HP:0007871, MedGen:C0020534, OMIM:145400|Human Phenotype Ontology:HP:0000821, Human Phenotype Ontology:HP:0003222, Human Phenotype Ontology:HP:0008203, MONDO:MONDO:0005420, MedGen:C0020676|Human Phenotype Ontology:HP:0012471, MedGen:C1836543|Human Phenotype Ontology:HP:0001509, Human Phenotype Ontology:HP:0003501, Human Phenotype Ontology:HP:0003507, Human Phenotype Ontology:HP:0003512, Human Phenotype Ontology:HP:0003518, Human Phenotype Ontology:HP:0003519, Human Phenotype Ontology:HP:0004322, Human Phenotype Ontology:HP:0008871, Human Phenotype Ontology:HP:0008882, Human Phenotype Ontology:HP:0008888, Human Phenotype Ontology:HP:0008913, MedGen:C0349588|Human Phenotype Ontology:HP:0002019, Human Phenotype Ontology:HP:0002241, Human Phenotype Ontology:HP:0003786, MedGen:C0009806|Human Phenotype Ontology:HP:0001378, Human Phenotype Ontology:HP:0001382, Human Phenotype Ontology:HP:0005034, MedGen:C1844820|Human Phenotype Ontology:HP:0000195, Human Phenotype Ontology:HP:0000212, MONDO:MONDO:0002507, MedGen:C0376480 | ClinVar preferred disease name | Thyroid tumor|Inborn genetic diseases|not specified|Hereditary cancer-predisposing syndrome|Medullary thyroid carcinoma|not provided|Multiple endocrine neoplasia, type 2|Multiple endocrine neoplasia, type 1|Thyroid carcinoma, sporadic medullary|Hirschsprung disease, susceptibility to, 1|Multiple endocrine neoplasia, type 2a|Multiple endocrine neoplasia, type 2b|Familial medullary thyroid carcinoma|Multiple endocrine neoplasia type 4|Pheochromocytoma|Tetralogy of Fallot|Hypertelorism|Hypothyroidism|Thick vermilion border|Short stature|Constipation|Joint hypermobility|Gingival overgrowth | HGVS variant names | NC 000010.10:g.43617416T>C | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA009082|OMIM:164761.0013|UniProtKB:P07949#VAR 006342 | Gene symbol:Gene id. | RET:5979 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 74799832 | 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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