View genomic variant #0000016391
Chromosome |
11 |
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.17482222C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
ABCC8_000004 |
MSCV |
MSCV_0016391 |
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 | RCV000369588; RCV000490279; RCV000671927; RCV001108197; RCV001108196; RCV001279202; RCV001818510; | Chromosome | 11:17482222..17482222 | Allele frequencies from ExAC | 0.00024 | Allele frequencies from TGP | 0.00080 | ClinVar Allele ID | 227344 | Disease database name and identifier | MedGen:CN169374|MONDO:MONDO:0009734, MedGen:C2931832, OMIM:256450, Orphanet:276575, Orphanet:276598|MONDO:MONDO:0012480, MedGen:C1835887, OMIM:610374, Orphanet:99886|MedGen:C3661900|Human Phenotype Ontology:HP:0005965, Human Phenotype Ontology:HP:0005978, Human Phenotype Ontology:HP:0100652, MONDO:MONDO:0005148, MeSH:D003924, MedGen:C0011860, OMIM:125853|.|MONDO:MONDO:0100164, MedGen:C1833104, OMIM:PS606176, Orphanet:99885 | ClinVar preferred disease name | not specified|Hyperinsulinemic hypoglycemia, familial, 1|Diabetes mellitus, transient neonatal, 2|not provided|Type II diabetes mellitus|Hereditary hyperinsulinism|Permanent neonatal diabetes mellitus | HGVS variant names | NC 000011.9:g.17482222C>T | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(5)|Benign(2)|Likely benign(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA5903742|UniProtKB:Q09428#VAR 008643 | Gene symbol:Gene id. | ABCC8:6833 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 185040406 | 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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