View genomic variant #0000000197
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.43615632C>G |
Published as |
- |
GERP |
5.580 |
Segregation |
- |
DB-ID |
RET_000005 See all 2 reported entries |
MSCV |
MSCV_0000197 |
dbSNP ID |
rs267607011 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
11788682;17895320 |
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 | RCV001851991; RCV002468975; | Chromosome | 10:43615632..43615632 | ClinVar Allele ID | 36303 | Disease database name and identifier | MedGen:CN169374|MONDO:MONDO:0019003, MedGen:C4048306, Orphanet:653 | ClinVar preferred disease name | not specified|Multiple endocrine neoplasia, type 2 | HGVS variant names | NC 000010.10:g.43615632C>G | 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:CA009020|OMIM:164761.0043 | Gene symbol:Gene id. | RET:5979 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 267607011 | For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN | MONDO:MONDO:0008082, MeSH:D018814, MedGen:C0025269, OMIM:162300, Orphanet:247709, Orphanet:653 | For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB | Multiple endocrine neoplasia, type 2b | Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. | 13945:Pathogenic | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000757722; RCV001267835; | Chromosome | 10:43615632..43615632 | ClinVar Allele ID | 36304 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0008234, MeSH:D018813, MedGen:C0025268, OMIM:171400, Orphanet:247698, Orphanet:653 | ClinVar preferred disease name | not provided|Multiple endocrine neoplasia, type 2a | HGVS variant names | NC 000010.10:g.43615632C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA009027 | Gene symbol:Gene id. | RET:5979 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 267607011 | 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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