RGD:156394377 Rat Genome Database

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Variant: RGD:156394377 -  Homo sapiens

RGD ID: 156394377
ClinVar ID: CV2141190
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMN  LOC130056554  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 103,396,498
GRCh38 14 102,930,161
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_030943.4:c.1007-4G>A
LRG_642:g.12506G>A
NG_008276.2:g.12506G>A
NC_000014.9:g.102930161G>A
More... 		02/08/2023 intron variant likely benign Enterocyte cobalamin malabsorption; Enterocyte intrinsic factor receptor, defect of; Imerslund-Gräsbeck syndrome; Megaloblastic anemia due to inborn errors of metabolism; Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AMN
Accession:NM_030943
Location:INTRON

Gene Symbol:AMN
Accession:NM_001425246
Location:INTRON

Gene Symbol:AMN
Accession:XM_011537203
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002944264 CLINVAR
MedGen C4551825 CLINVAR
NCBI Gene AMN CLINVAR
  LOC130056554 CLINVAR
OMIM 605799 CLINVAR
SNOMED CT 34925000 CLINVAR