rs954727530 Rat Genome Database

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Variant: rs954727530 -  Homo sapiens

RGD ID: 13787628
RS ID: rs954727530
ClinVar ID: CV545841
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 17,409,539
GRCh38 11 17,387,992
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001166290.2:c.-16-146C>T
NG_012446.1:g.5668C>T
NC_000011.10:g.17387992G>A
NC_000011.9:g.17409539G>A
More... 		01/01/2024 intron variant pathogenic|likely pathogenic Diabetes mellitus, noninsulin-dependent, late onset; Diabetes mellitus, transient neonatal, 3; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Hyperinsulinemic hypoglycemia, familial, 2; HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL; 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)
CV545841Humandiabetes mellitus  IAGP 8554872ClinVar Annotator: match by term: Monogenic diabetesClinVarPMID:12524280|PMID:15807877|PMID:17446535|PMID:20685672|PMID:23275527|PMID:24421282|PMID:24686051|PMID:25741868|PMID:26467025|PMID:27908292|PMID:28270372|PMID:28492532|PMID:31218401|PMID:33046911
CV545841Humanmaturity-onset diabetes of the young type 1  IAGP 8554872ClinVar Annotator: match by term: Type 2 diabetes mellitusClinVarPMID:12524280|PMID:15807877|PMID:17446535|PMID:20685672|PMID:23275527|PMID:24421282|PMID:24686051|PMID:25741868|PMID:26467025|PMID:27908292|PMID:28270372|PMID:28492532|PMID:31218401|PMID:33046911
CV545841Humanpermanent neonatal diabetes mellitus  IAGP 8554872ClinVar Annotator: match by term: Permanent neonatal diabetes mellitusClinVarPMID:12524280|PMID:15807877|PMID:17446535|PMID:20685672|PMID:23275527|PMID:24421282|PMID:24686051|PMID:25741868|PMID:26467025|PMID:27908292|PMID:28270372|PMID:28492532|PMID:31218401|PMID:33046911
CV545841Humantype 2 diabetes mellitus  IAGP 8554872ClinVar Annotator: match by term: Type 2 diabetes mellitusClinVarPMID:12524280|PMID:15807877|PMID:17446535|PMID:20685672|PMID:23275527|PMID:24421282|PMID:24686051|PMID:25741868|PMID:26467025|PMID:27908292|PMID:28270372|PMID:28492532|PMID:31218401|PMID:33046911

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV545841HumanType II diabetes mellitus  IAGP 8554872ClinVar Annotator: match by term: Type 2 diabetes mellitusClinVarPMID:12524280|PMID:15807877|PMID:17446535|PMID:20685672|PMID:23275527|PMID:24421282|PMID:24686051|PMID:25741868|PMID:26467025|PMID:27908292|PMID:28270372|PMID:28492532|PMID:31218401|PMID:33046911
Gene Symbol:KCNJ11
Accession:NM_001166290
Location:5UTRS;INTRON

Gene Symbol:KCNJ11
Accession:NM_001377297
Location:5UTRS;INTRON

Gene Symbol:KCNJ11
Accession:NM_001377296
Location:5UTRS;INTRON

Gene Symbol:KCNJ11
Accession:NM_000525
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRACFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFL
CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN
AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM
ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA
EEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*
.
PMID:12524280   PMID:15807877   PMID:17446535   PMID:20685672   PMID:23275527   PMID:24421282   PMID:24686051   PMID:25741868   PMID:26467025   PMID:27908292   PMID:28270372   PMID:28492532  
PMID:31218401   PMID:33046911  



1 to 16 of 16 rows
Database
Acc Id
Source(s)
ClinVar RCV000673558 CLINVAR
  RCV001855597 CLINVAR
  RCV002225111 CLINVAR
  RCV003459641 CLINVAR
dbSNP (RS) rs954727530 CLINVAR
MedGen C0011860 CLINVAR
  C1833104 CLINVAR
  C3661900 CLINVAR
  C3888631 CLINVAR
NCBI Gene KCNJ11 CLINVAR
OMIM 125853 CLINVAR
  600937 CLINVAR
  601820 CLINVAR
  606176 CLINVAR
  610582 CLINVAR
SNOMED CT 44054006 CLINVAR
1 to 16 of 16 rows