View genomic variant #0000000284
Chromosome |
11 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.17417462G>T |
Published as |
- |
GERP |
5.060 |
Segregation |
- |
DB-ID |
ABCC8_000002 |
MSCV |
MSCV_0000284 |
dbSNP ID |
rs137852673 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
18025464;16885549 |
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 | RCV000009674; RCV000009673; RCV000502425; RCV001249022; RCV001851773; | Chromosome | 11:17417462..17417462 | Allele frequencies from ExAC | 0.00003 | ClinVar Allele ID | 24144 | Disease database name and identifier | MONDO:MONDO:0015967, MedGen:C3888631, Orphanet:183625|MedGen:C3661900|MONDO:MONDO:0012480, MedGen:C1835887, OMIM:610374, Orphanet:99886|MONDO:MONDO:0100164, MedGen:C1833104, OMIM:PS606176, Orphanet:99885|Human Phenotype Ontology:HP:0005965, Human Phenotype Ontology:HP:0005978, Human Phenotype Ontology:HP:0100652, MONDO:MONDO:0005148, MeSH:D003924, MedGen:C0011860, OMIM:125853 | ClinVar preferred disease name | Monogenic diabetes|not provided|Diabetes mellitus, transient neonatal, 2|Permanent neonatal diabetes mellitus|Type II diabetes mellitus | HGVS variant names | NC 000011.9:g.17417462G>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:CA120112|OMIM:600509.0019 | Gene symbol:Gene id. | ABCC8:6833 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 137852673 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000675131; RCV001248973; RCV001835635; RCV001852582; RCV000029261; | Chromosome | 11:17417462..17417462 | ClinVar Allele ID | 44279 | Disease database name and identifier | MONDO:MONDO:0015967, MedGen:C3888631, Orphanet:183625|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009734, MedGen:C2931832, OMIM:256450, Orphanet:276575, Orphanet:276598|. | ClinVar preferred disease name | Monogenic diabetes|not specified|not provided|Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism | HGVS variant names | NC 000011.9:g.17417462G>T | 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:CA213454 | Gene symbol:Gene id. | ABCC8:6833 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 137852673 | 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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