View genomic variant #0000015807
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.43606829G>A |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
RET_000033 |
MSCV |
MSCV_0015807 |
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 | RCV000121996; RCV000409013; RCV000410596; RCV000461515; RCV000570658; RCV000758696; RCV001650985; | Chromosome | 10:43606829..43606829 | Allele frequencies from ExAC | 0.00031 | Allele frequencies from TGP | 0.00080 | ClinVar Allele ID | 138928 | Disease database name and identifier | MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MedGen:CN169374|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|MONDO:MONDO:0007723, MedGen:C3888239, OMIM:142623, Orphanet:388 | ClinVar preferred disease name | Hereditary cancer-predisposing syndrome|not specified|not provided|Multiple endocrine neoplasia, type 2|Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia, type 2a|Hirschsprung disease, susceptibility to, 1 | HGVS variant names | NC 000010.10:g.43606829G>A | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Likely pathogenic(1)|Uncertain significance(3)|Likely benign(4) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA007585|UniProtKB:P07949#VAR 067114 | Gene symbol:Gene id. | RET:5979 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 537874538 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002289465; | Chromosome | 10:43606829..43606829 | ClinVar Allele ID | 1708004 | Disease database name and identifier | MONDO:MONDO:0007723, MedGen:C3888239, OMIM:142623, Orphanet:388 | ClinVar preferred disease name | Hirschsprung disease, susceptibility to, 1 | HGVS variant names | NC 000010.10:g.43606829G>T | ClinVar review status | criteria provided, single submitter | 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:0001587|nonsense | 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
|