RGD:13525951 Rat Genome Database

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Variant: RGD:13525951 -  Homo sapiens

RGD ID: 13525951
RS ID: rs531129429
ClinVar ID: CV504988
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAH  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 80,454,687
GRCh38 15 80,162,345
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000137.2:c.455+9T>C
NG_012833.1:g.14347T>C
NC_000015.10:g.80162345T>C
NC_000015.9:g.80454687T>C
More... 		11/03/2020 intron variant benign|likely benign|conflicting interpretations of pathogenicity 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_001374377
Location:INTRON

Gene Symbol:FAH
Accession:NM_001374380
Location:INTRON

Gene Symbol:FAH
Accession:NM_000137
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000603567 CLINVAR
  RCV000979961 CLINVAR
  RCV003905588 CLINVAR
dbSNP (RS) rs531129429 CLINVAR
MedGen C0268490 CLINVAR
  CN169374 CLINVAR
NCBI Gene FAH CLINVAR
OMIM 276700 CLINVAR
  613871 CLINVAR
SNOMED CT 410056006 CLINVAR