RGD:11616099 Rat Genome Database

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Variant: RGD:11616099 -  Homo sapiens

RGD ID: 11616099
RS ID: rs764107333
ClinVar ID: CV326703
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCC8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 17,491,772
GRCh38 11 17,470,225
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_790t2:c.291-3C>T
NM_001287174.3:c.291-3C>T
NG_008867.1:g.11678C>T
NC_000011.10:g.17470225G>A
More... 		07/19/2022 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance the estimated incidence of permanent neonatal diabetes ranges from 1:215,000 to 1:260,000 live births AllHighlyPenetrant; HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS; HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY; Mason type diabetes; NESIDIOBLASTOSIS OF PANCREAS; none provided; Permanent diabetes mellitus of infancy; Persistent Hyperinsulinemia Hypoglycemia of Infancy; Persistent hyperinsulinemic hypoglycemia of infancy; Transient neonatal diabetes mellitus
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ABCC8
Accession:NM_001351297
Location:INTRON

Gene Symbol:ABCC8
Accession:NM_001351296
Location:INTRON

Gene Symbol:ABCC8
Accession:NM_000352
Location:INTRON

Gene Symbol:ABCC8
Accession:NM_001351295
Location:INTRON

Gene Symbol:ABCC8
Accession:NM_001287174
Location:INTRON

Gene Symbol:ABCC8
Accession:NR_147094
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:16613899   PMID:16885549   PMID:17576681   PMID:18025408   PMID:18981553   PMID:21989597   PMID:25741868   PMID:27538677   PMID:28492532   PMID:32027066   PMID:32792356  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000291838 CLINVAR
  RCV000349251 CLINVAR
  RCV000383921 CLINVAR
  RCV000499468 CLINVAR
  RCV000710052 CLINVAR
  RCV002254162 CLINVAR
  RCV002254163 CLINVAR
  RCV003910114 CLINVAR
dbSNP (RS) rs764107333 CLINVAR
MedGen C0342273 CLINVAR
  C0342276 CLINVAR
  C1833104 CLINVAR
  C1835887 CLINVAR
  C2931832 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ABCC8 CLINVAR
OMIM 256450 CLINVAR
  600509 CLINVAR
  606176 CLINVAR
  606391 CLINVAR
  610374 CLINVAR
SNOMED CT 237603002 CLINVAR
  28453007 CLINVAR
  360339005 CLINVAR