RGD:10406824 Rat Genome Database

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Variant: RGD:10406824 -  Homo sapiens

RGD ID: 10406824
RS ID: rs797045624
ClinVar ID: CV208635
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: INSR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 7,167,977
GRCh38 19 7,167,966
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000019.10:g.7167966A>G
NC_000019.9:g.7167977A>G
NG_008852.2:g.131035T>C
NM_000208.2:c.1610+2T>C
More... 		01/07/2015 splice donor variant pathogenic all ages <1 / 1 000 000 Hyperinsulinemic hypoglycemia familial 5; Hyperinsulinism due to glutamodehydrogenase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:INSR
Accession:XM_011527989
Location:INTRON

Gene Symbol:INSR
Accession:XM_011527988
Location:INTRON

Gene Symbol:INSR
Accession:NM_001079817
Location:INTRON

Gene Symbol:INSR
Accession:NM_000208
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000194300 CLINVAR
dbSNP (RS) rs797045624 CLINVAR
MedGen C1864952 CLINVAR
NCBI Gene INSR CLINVAR
OMIM 147670 CLINVAR
  609968 CLINVAR