rs557160758 Rat Genome Database

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Variant: rs557160758 -  Homo sapiens

RGD ID: 127242050
RS ID: rs557160758
ClinVar ID: CV1055991
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: KCNJ11  LOC127820555  
Reference Nucleotide: -
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 17,409,234
GRCh38 11 17,387,687
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_000525.3:c.405dup
NP_000516.3:p.Arg136fs
NP_001364226.1:p.Arg49fs
NP_001364225.1:p.Arg49fs
More... 		07/17/2023 frameshift variant pathogenic|likely pathogenic Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; none provided; Permanent diabetes mellitus of infancy; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Type II diabetes mellitus
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1055991Humanmaturity-onset diabetes of the young type 1  IAGP 8554872ClinVar Annotator: match by term: Type 2 diabetes mellitusClinVarPMID:11395395|PMID:22005014|PMID:25201519|PMID:25741868|PMID:27181376|PMID:28492532
CV1055991Humanpermanent neonatal diabetes mellitus  IAGP 8554872ClinVar Annotator: match by term: Permanent neonatal diabetes mellitusClinVarPMID:11395395|PMID:22005014|PMID:25201519|PMID:25741868|PMID:27181376|PMID:28492532
CV1055991Humantype 2 diabetes mellitus  IAGP 8554872ClinVar Annotator: match by term: Type 2 diabetes mellitusClinVarPMID:11395395|PMID:22005014|PMID:25201519|PMID:25741868|PMID:27181376|PMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1055991HumanType II diabetes mellitus  IAGP 8554872ClinVar Annotator: match by term: Type 2 diabetes mellitusClinVarPMID:11395395|PMID:22005014|PMID:25201519|PMID:25741868|PMID:27181376|PMID:28492532

.
PMID:11395395   PMID:22005014   PMID:25201519   PMID:25741868   PMID:27181376   PMID:28492532  



1 to 12 of 12 rows
Database
Acc Id
Source(s)
ClinVar RCV001376863 CLINVAR
  RCV001831333 CLINVAR
  RCV003462943 CLINVAR
dbSNP (RS) rs557160758 CLINVAR
MedGen C0011860 CLINVAR
  C1833104 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNJ11 CLINVAR
OMIM 125853 CLINVAR
  600937 CLINVAR
  606176 CLINVAR
SNOMED CT 44054006 CLINVAR
1 to 12 of 12 rows