RGD:11587671 Rat Genome Database

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Variant: RGD:11587671 -  Homo sapiens

RGD ID: 11587671
RS ID: rs755299574
ClinVar ID: CV286087
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEUROD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 182,542,942
GRCh38 2 181,678,215
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.181678215C>T
NC_000002.11:g.182542942C>T
NP_002491.2:p.Val216Ile
NM_002500.4:c.646G>A
More... 		01/13/2018 missense variant uncertain significance Diabetes mellitus MODY type 6; Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; MODY NEUROD1 related; MODY type 6; none provided; Type 2 diabetes mellitus; Type II diabetes mellitus
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:NEUROD1
Accession:NM_002500
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTKSYSESGLMGEPQPQGPPSWTDECLSSQDEEHEADKKEDDLETMNAEEDSLRNGGEEEDEDEDLEEEEEEEEEDDDQK
PKRRGPKKKKMTKARLERFKLRRMKANARERNRMHGLNAALDNLRKVVPCYSKTQKLSKIETLRLAKNYIWALSEILRSG
KSPDLVSFVQTLCKGLSQPTTNLVAGCLQLNPRTFLPEQNQDMPPHLPTASASFPIHPYSYQSPGLPSPPYGTMDSSHVF
HVKPPPHAYSAALEPFFESPLTDCTSPSFDGPLSPPLSINGNFSFKHEPSAEFEKNYAFTMHYPAATLAGAQSHGSIFSG
TAAPRCEIPIDNIMSFDSHSHHERVMSAQLNAIFHD*

Gene Symbol:NEUROD1
Accession:NR_146176
Location:INTRON;NON-CODING

Gene Symbol:NEUROD1
Accession:NR_146175
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000296771 CLINVAR
  RCV001298849 CLINVAR
  RCV002480183 CLINVAR
dbSNP (RS) rs755299574 CLINVAR
MedGen C1853371 CLINVAR
  C3661900 CLINVAR
NCBI Gene NEUROD1 CLINVAR
OMIM 125853 CLINVAR
  601724 CLINVAR
  606394 CLINVAR
SNOMED CT 44054006 CLINVAR