RGD:28876177 Rat Genome Database

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Variant: RGD:28876177 -  Homo sapiens

RGD ID: 28876177
RS ID: rs375774640
ClinVar ID: CV861256
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMN  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 103,390,315
GRCh38 14 102,923,978
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008276.2:g.6323T>A
LRG_642:g.6323T>A
NC_000014.9:g.102923978T>A
NC_000014.8:g.103390315T>A
More... 		05/19/2020 missense variant pathogenic Imerslund-Gräsbeck syndrome 2; Megaloblastic anemia 1, Norwegian type; MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AMN
Accession:XM_011537202
Location:EXON

Gene Symbol:AMN
Accession:NM_030943
Location:EXON

Gene Symbol:AMN
Accession:XM_011537203
Location:EXON

Variant Samples
Additional References at PubMed
PMID:26040326  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001095387 CLINVAR
dbSNP (RS) rs375774640 CLINVAR
MedGen C4016948 CLINVAR
NCBI Gene AMN CLINVAR
OMIM 605799 CLINVAR
  618882 CLINVAR
OMIM Allele 605799.0007 CLINVAR