RGD:11621589 Rat Genome Database

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Variant: RGD:11621589 -  Homo sapiens

RGD ID: 11621589
RS ID: rs1049194
ClinVar ID: CV339984
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAH  LOC127830421  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 80,478,645
GRCh38 15 80,186,303
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000137.3:c.*94T>C
NG_012833.1:g.38305T>C
NC_000015.10:g.80186303T>C
NC_000015.9:g.80478645T>C
More... 		07/01/2021 3 prime utr variant benign|likely benign Deficiency of fumarylacetoacetase; FAH deficiency; Fumarylacetoacetase deficiency; Hepatorenal tyrosinemia; none provided; Tyrosinemia type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FAH
Accession:NM_000137
Location:3UTRS;EXON

Gene Symbol:FAH
Accession:NM_001374380
Location:3UTRS;EXON

Gene Symbol:FAH
Accession:NM_001374377
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000350427 CLINVAR
  RCV001613018 CLINVAR
dbSNP (RS) rs1049194 CLINVAR
MedGen C0268490 CLINVAR
  C3661900 CLINVAR
NCBI Gene FAH CLINVAR
OMIM 276700 CLINVAR
  613871 CLINVAR
SNOMED CT 410056006 CLINVAR