RGD:11598167 Rat Genome Database

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Variant: RGD:11598167 -  Homo sapiens

RGD ID: 11598167
RS ID: rs188774781
ClinVar ID: CV284156
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEUROD1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 182,541,421
GRCh38 2 181,676,694
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1119:g.8824T>C
NG_011820.3:g.8824T>C
NM_002500.4:c.*1096T>C
NM_002500.5:c.*1096T>C
More... 		01/13/2018 3 prime utr variant uncertain significance Diabetes mellitus MODY type 6; MODY NEUROD1 related; MODY type 6
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NEUROD1
Accession:NM_002500
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000402227 CLINVAR
dbSNP (RS) rs188774781 CLINVAR
MedGen C1853371 CLINVAR
NCBI Gene NEUROD1 CLINVAR
OMIM 601724 CLINVAR
  606394 CLINVAR