RGD:401941921 Rat Genome Database

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Variant: RGD:401941921 -  Homo sapiens

RGD ID: 401941921
ClinVar ID: CV2834293
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AC104134.1  EIF2AK3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 88,858,498
GRCh38 2 88,558,980
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1024t1:c.3088-1G>C
NM_001313915.2:c.2635-1G>C
NM_004836.7:c.3088-1G>C
LRG_1024:g.73597G>C
More... 		10/04/2022 splice acceptor variant likely pathogenic Wolcott-Rallison syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EIF2AK3
Accession:NM_004836
Location:INTRON

Gene Symbol:EIF2AK3
Accession:NM_001313915
Location:INTRON

Gene Symbol:EIF2AK3
Accession:XM_047446428
Location:INTRON

Gene Symbol:EIF2AK3
Accession:XM_047446429
Location:INTRON

Gene Symbol:EIF2AK3
Accession:XM_047446430
Location:INTRON

Gene Symbol:AC104134.1
Accession:NR_110236
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003467903 CLINVAR
MedGen C0432217 CLINVAR
NCBI Gene AC104134.1 CLINVAR
  EIF2AK3 CLINVAR
OMIM 226980 CLINVAR
  604032 CLINVAR
SNOMED CT 254066006 CLINVAR