RGD:11623873 Rat Genome Database

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Variant: RGD:11623873 -  Homo sapiens

RGD ID: 11623873
RS ID: rs200319726
ClinVar ID: CV339962
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 80,445,489
GRCh38 15 80,153,147
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012833.1:g.5149G>A
NC_000015.10:g.80153147G>A
NC_000015.9:g.80445489G>A
NM_000137.2:c.81+12G>A
More... 		11/01/2022 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Deficiency of fumarylacetoacetase; FAH deficiency; Fumarylacetoacetase deficiency; Hepatorenal tyrosinemia; Tyrosinemia type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FAH
Accession:NM_000137
Location:INTRON

Gene Symbol:FAH
Accession:NM_001374380
Location:INTRON

Gene Symbol:FAH
Accession:NM_001374377
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000378744 CLINVAR
  RCV000606018 CLINVAR
  RCV003950078 CLINVAR
dbSNP (RS) rs200319726 CLINVAR
MedGen C0268490 CLINVAR
  CN169374 CLINVAR
NCBI Gene FAH CLINVAR
OMIM 276700 CLINVAR
  613871 CLINVAR
SNOMED CT 410056006 CLINVAR