RGD:11627968 Rat Genome Database

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Variant: RGD:11627968 -  Homo sapiens

RGD ID: 11627968
RS ID: rs13306451
ClinVar ID: CV344474
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: INSR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 7,142,824
GRCh38 19 7,142,813
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
NG_008852.2:g.156188A>G
NC_000019.10:g.7142813T>C
NC_000019.9:g.7142824T>C
NM_000208.2:c.2542+3A>G
More... 		12/31/2023 intron variant benign|likely benign antenatal|childhood|infancy <1 / 1 000 000 DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A; Donohue syndrome; INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANS; Insulin-resistance syndrome type A; IRAN, TYPE A; Leprechaunism; none provided; Pineal hyperplasia AND diabetes mellitus syndrome; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities; type A insulin resistance

Variant Details
Variant Transcripts
Gene Symbol:INSR
Accession:XM_011527988
Location:INTRON

Gene Symbol:INSR
Accession:XM_011527989
Location:INTRON

Gene Symbol:INSR
Accession:NM_000208
Location:INTRON

Gene Symbol:INSR
Accession:NM_001079817
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000292833 CLINVAR
  RCV000346593 CLINVAR
  RCV000387025 CLINVAR
  RCV002057547 CLINVAR
dbSNP (RS) rs13306451 CLINVAR
MedGen C0265344 CLINVAR
  C0271695 CLINVAR
  C0342278 CLINVAR
  C3661900 CLINVAR
NCBI Gene INSR CLINVAR
OMIM 147670 CLINVAR
  246200 CLINVAR
  262190 CLINVAR
  610549 CLINVAR
SNOMED CT 111307005 CLINVAR
  33559001 CLINVAR
  9859006 CLINVAR