View genomic variant #0000000194
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.43614996G>T |
Published as |
- |
GERP |
5.360 |
Segregation |
- |
DB-ID |
RET_000003 |
MSCV |
MSCV_0000194 |
dbSNP ID |
rs79658334 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
11589684;11932300;3697657;12694233;15741265;11788682;8797874;7784092 |
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 | RCV000148773; RCV000182584; RCV000210181; RCV000499191; RCV000515232; RCV000586783; RCV001804750; RCV003153308; RCV003458341; RCV003460494; | Chromosome | 10:43614996..43614996 | ClinVar Allele ID | 28984 | Disease database name and identifier | .|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008170, MedGen:C1140680, Orphanet:213500|MedGen:C3661900|MONDO:MONDO:0019003, MedGen:C4048306, Orphanet:653|MedGen:CN311636|MONDO:MONDO:0007723, MedGen:C3888239, OMIM:142623, Orphanet:388|MONDO:MONDO:0008234, MeSH:D018813, MedGen:C0025268, OMIM:171400, Orphanet:247698, Orphanet:653|MONDO:MONDO:0007958, MedGen:C1833921, OMIM:155240, Orphanet:653, Orphanet:99361|MONDO:MONDO:0024519, MedGen:C1619700, OMIM:191830, Orphanet:411709|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:0008082, MeSH:D018814, MedGen:C0025269, OMIM:162300, Orphanet:247709, Orphanet:653 | ClinVar preferred disease name | RET-related disease|Hereditary cancer-predisposing syndrome|Ovarian cancer|not provided|Multiple endocrine neoplasia, type 2|MEN2 phenotype: Unclassified|Hirschsprung disease, susceptibility to, 1|Multiple endocrine neoplasia, type 2a|Familial medullary thyroid carcinoma|Renal hypodysplasia/aplasia 1|Pheochromocytoma|Congenital central hypoventilation|Multiple endocrine neoplasia, type 2b | HGVS variant names | NC 000010.10:g.43614996G>A | 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:CA008751|OMIM:164761.0043|UniProtKB:P07949#VAR 006337 | Gene symbol:Gene id. | RET:5979 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 79658334 | For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN | Human Phenotype Ontology:HP:0002865, MONDO:MONDO:0015277, MeSH:C536914, MedGen:C0238462, Orphanet:1332|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 | Medullary thyroid carcinoma|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|618965:Pathogenic | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000021853; RCV000419916; RCV000426266; RCV000425568; RCV000436948; RCV000437130; RCV000479688; RCV002453279; RCV003226171; | Chromosome | 10:43614996..43614996 | ClinVar Allele ID | 47217 | Disease database name and identifier | Human Phenotype Ontology:HP:0002865, MONDO:MONDO:0015277, MeSH:C536914, MedGen:C0238462, Orphanet:1332|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:CN311636|MONDO:MONDO:0019003, MedGen:C4048306, Orphanet:653|MONDO:MONDO:0007540, MeSH:D018761, MedGen:C0025267, OMIM:131100, Orphanet:652|MONDO:MONDO:0008082, MeSH:D018814, MedGen:C0025269, OMIM:162300, Orphanet:247709, Orphanet:653|MONDO:MONDO:0012552, MedGen:C1970712, OMIM:610755, Orphanet:276152|MONDO:MONDO:0008234, MeSH:D018813, MedGen:C0025268, OMIM:171400, Orphanet:247698, Orphanet:653 | ClinVar preferred disease name | Medullary thyroid carcinoma|Hereditary cancer-predisposing syndrome|not provided|MEN2 phenotype: Unclassified|Multiple endocrine neoplasia, type 2|Multiple endocrine neoplasia, type 1|Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia type 4|Multiple endocrine neoplasia, type 2a | HGVS variant names | NC 000010.10:g.43614996G>C | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA008758|UniProtKB:P07949#VAR 006336 | Gene symbol:Gene id. | RET:5979 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 79658334 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000014973; RCV000021854; RCV000354366; RCV000487450; RCV000596480; RCV000561258; | Chromosome | 10:43614996..43614996 | ClinVar Allele ID | 28985 | Disease database name and identifier | MONDO:MONDO:0007958, MedGen:C1833921, OMIM:155240, Orphanet:653, Orphanet:99361|MONDO:MONDO:0017169, MedGen:C0027662, OMIM:PS131100, Orphanet:276161|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0019003, MedGen:C4048306, Orphanet:653|MONDO:MONDO:0008234, MeSH:D018813, MedGen:C0025268, OMIM:171400, Orphanet:247698, Orphanet:653 | ClinVar preferred disease name | Familial medullary thyroid carcinoma|Multiple endocrine neoplasia|Hereditary cancer-predisposing syndrome|not provided|Multiple endocrine neoplasia, type 2|Multiple endocrine neoplasia, type 2a | HGVS variant names | NC 000010.10:g.43614996G>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA008766|OMIM:164761.0044|UniProtKB:P07949#VAR 006336 | Gene symbol:Gene id. | RET:5979 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 79658334 | 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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