RGD:243050815 Rat Genome Database

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Variant: RGD:243050815 -  Homo sapiens

RGD ID: 243050815
ClinVar ID: CV2417623
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGR2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 16,839,367
GRCh38 7 16,799,743
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006408.3:c.330+1G>T
NM_006408.4:c.330+1G>T
NC_000007.14:g.16799743C>A
NC_000007.13:g.16839367C>A
 01/31/2023 splice donor variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AGR2
Accession:NM_006408
Location:INTRON

Gene Symbol:AGR2
Accession:XM_005249581
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:34952832  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003152495 CLINVAR
MedGen C5774306 CLINVAR
NCBI Gene AGR2 CLINVAR
OMIM 606358 CLINVAR
  620233 CLINVAR
OMIM Allele 606358.0003 CLINVAR