View genomic variant #0000015818
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.43612120C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
RET_000045 |
MSCV |
MSCV_0015818 |
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 | RCV000167451; RCV000409277; RCV000409934; RCV000654567; RCV000764899; | Chromosome | 10:43612120..43612120 | Allele frequencies from ExAC | 0.00002 | ClinVar Allele ID | 182955 | Disease database name and identifier | 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|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|MONDO:MONDO:0800031, MedGen:C1275808, OMIM:PS209880, Orphanet:661, Orphanet:99803|MONDO:MONDO:0007723, MedGen:C3888239, OMIM:142623, Orphanet:388|MONDO:MONDO:0007958, MedGen:C1833921, OMIM:155240, Orphanet:653, Orphanet:99361|MONDO:MONDO:0019003, MedGen:C4048306, Orphanet:653 | ClinVar preferred disease name | Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia, type 2a|Hereditary cancer-predisposing syndrome|Pheochromocytoma|Congenital central hypoventilation|Hirschsprung disease, susceptibility to, 1|Familial medullary thyroid carcinoma|Multiple endocrine neoplasia, type 2 | HGVS variant names | NC 000010.10:g.43612120C>T | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(4)|Likely benign(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA008602 | Gene symbol:Gene id. | RET:5979 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 773256580 | 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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