RGD:11644666 Rat Genome Database

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Variant: RGD:11644666 -  Homo sapiens

RGD ID: 11644666
RS ID: rs886055326
ClinVar ID: CV286078
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEUROD1  
Reference Nucleotide: -
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 182,542,146
GRCh38 2 181,677,419
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.181677419_181677420insA
NC_000002.11:g.182542146_182542147insA
NM_002500.4:c.*370_*371insT
LRG_1119:g.8098_8099insT
More... 		06/14/2016 3 prime utr variant uncertain significance Mason type diabetes
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_146176
Location:INTRON;NON-CODING

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000261048 CLINVAR
dbSNP (RS) rs886055326 CLINVAR
MedGen C0342276 CLINVAR
NCBI Gene NEUROD1 CLINVAR
OMIM 601724 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR