RGD:21072717 Rat Genome Database

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Variant: RGD:21072717 -  Homo sapiens

RGD ID: 21072717
RS ID: rs143841175
ClinVar ID: CV793035
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMT  NICN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 49,459,884
GRCh38 3 49,422,451
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032316.3:c.*2382G>A
NM_000481.4:c.-1G>A
NM_001164710.2:c.-1G>A
NM_001164711.2:c.-1G>A
More... 		06/12/2019 3 prime utr variant benign Glycine encephalopathy; none provided; Nonketotic hyperglycinemia
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:NICN1
Accession:NM_032316
Location:3UTRS;EXON

Gene Symbol:AMT
Accession:NM_000481
Location:5UTRS;EXON

Gene Symbol:AMT
Accession:NM_001164712
Location:5UTRS;EXON

Gene Symbol:AMT
Accession:NM_001164710
Location:5UTRS;EXON

Gene Symbol:AMT
Accession:NM_001164711
Location:5UTRS;EXON

Gene Symbol:AMT
Accession:NR_028435
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000991517 CLINVAR
  RCV001148455 CLINVAR
dbSNP (RS) rs143841175 CLINVAR
MedGen C0751748 CLINVAR
  C3661900 CLINVAR
NCBI Gene AMT CLINVAR
  NICN1 CLINVAR
OMIM 238310 CLINVAR
  605899 CLINVAR
  611516 CLINVAR
SNOMED CT 237939006 CLINVAR