rs756424776 Rat Genome Database

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Variant: rs756424776 -  Homo sapiens

RGD ID: 151355846
RS ID: rs756424776
ClinVar ID: CV1327030
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ11  LOC127820555  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 17,409,286
GRCh38 11 17,387,739
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_000525.4:c.353C>T
NM_001166290.2:c.92C>T
NM_001377296.1:c.92C>T
NM_001377297.1:c.92C>T
More... 		01/24/2025 missense variant uncertain significance AllHighlyPenetrant; Diabetes mellitus, noninsulin-dependent, late onset; Diabetes mellitus, permanent neonatal 2; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Hyperinsulinemic hypoglycemia, familial, 2; HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL; Maturity-onset diabetes of the young type 13; MODY, TYPE 13; Type 2 diabetes mellitus; Type II diabetes mellitus
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1327030HumanTransient Neonatal Diabetes Mellitus, 3  IAGP 8554872ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3ClinVarPMID:22512215|PMID:25741868|PMID:31291970|PMID:32027066|PMID:38366195

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1327030HumanType II diabetes mellitus  IAGP 8554872ClinVar Annotator: match by term: Type II diabetes mellitusClinVarPMID:22512215|PMID:25741868|PMID:31291970|PMID:32027066|PMID:38366195
Gene Symbol:KCNJ11
Accession:NM_000525
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFL
CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFLSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN
AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM
ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA
EEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001166290
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFLSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001377296
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFLSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001377297
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFLSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*
.
PMID:22512215   PMID:25741868   PMID:31291970   PMID:32027066   PMID:38366195  



1 to 13 of 13 rows
Database
Acc Id
Source(s)
ClinVar RCV001822199 CLINVAR
  RCV002489866 CLINVAR
dbSNP (RS) rs756424776 CLINVAR
MedGen C1864623 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNJ11 CLINVAR
OMIM 125853 CLINVAR
  600937 CLINVAR
  601820 CLINVAR
  610582 CLINVAR
  616329 CLINVAR
  618856 CLINVAR
SNOMED CT 44054006 CLINVAR
1 to 13 of 13 rows