RGD:11627948 Rat Genome Database

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Variant: RGD:11627948 -  Homo sapiens

RGD ID: 11627948
RS ID: rs562228680
ClinVar ID: CV344455
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: INSR  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 7,116,566
GRCh38 19 7,116,555
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.182446T>G
NC_000019.10:g.7116555A>C
NC_000019.9:g.7116566A>C
NM_000208.2:c.*501T>G
More... 		01/13/2018 3 prime utr variant 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; 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:3UTRS;EXON

Gene Symbol:INSR
Accession:XM_011527989
Location:3UTRS;EXON

Gene Symbol:INSR
Accession:NM_001079817
Location:3UTRS;EXON

Gene Symbol:INSR
Accession:NM_000208
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000292582 CLINVAR
  RCV000349886 CLINVAR
  RCV000404432 CLINVAR
dbSNP (RS) rs562228680 CLINVAR
MedGen C0265344 CLINVAR
  C0271695 CLINVAR
  C0342278 CLINVAR
NCBI Gene INSR CLINVAR
OMIM 147670 CLINVAR
  246200 CLINVAR
  262190 CLINVAR
  610549 CLINVAR
SNOMED CT 111307005 CLINVAR
  33559001 CLINVAR
  9859006 CLINVAR