RGD:8617478 Rat Genome Database

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Variant: RGD:8617478 -  Homo sapiens

RGD ID: 8617478
RS ID: rs386834169
ClinVar ID: CV71389
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMN  LOC130056553  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 103,394,762
GRCh38 14 102,928,425
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008276.2:g.10770G>C
NC_000014.9:g.102928425G>C
NC_000014.8:g.103394762G>C
LRG_642t1:c.208-1G>C
More... 		10/08/2023 splice acceptor variant|splice-3 pathogenic|likely pathogenic childhood 1-9 / 1 000 000 Enterocyte cobalamin malabsorption; Enterocyte intrinsic factor receptor, defect of; Imerslund-Gräsbeck syndrome; Imerslund-Gräsbeck syndrome 2; Megaloblastic anemia 1, Norwegian type; Megaloblastic anemia due to inborn errors of metabolism; MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE; 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:XM_011537202
Location:INTRON

Gene Symbol:AMN
Accession:XM_011537203
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12590260   PMID:15024727   PMID:16199547   PMID:22078000   PMID:22929189   PMID:24044590   PMID:25741868   PMID:28492532   PMID:32045704  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000050163 CLINVAR
  RCV003338400 CLINVAR
dbSNP (RS) rs386834169 CLINVAR
MedGen C4016948 CLINVAR
  C4551825 CLINVAR
NCBI Gene AMN CLINVAR
  LOC130056553 CLINVAR
OMIM 605799 CLINVAR
  618882 CLINVAR
SNOMED CT 34925000 CLINVAR