RGD:11545468 Rat Genome Database

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Variant: RGD:11545468 -  Homo sapiens

RGD ID: 11545468
RS ID: rs2043691
ClinVar ID: CV255374
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAH  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 80,472,431
GRCh38 15 80,180,089
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.961-35C>A
NG_012833.1:g.32091C>A
NC_000015.10:g.80180089C>A
NC_000015.9:g.80472431C>A
More... 		07/01/2021 intron variant benign AllHighlyPenetrant; 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:INTRON

Gene Symbol:FAH
Accession:NM_001374377
Location:INTRON

Gene Symbol:FAH
Accession:NM_001374380
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000245178 CLINVAR
  RCV001533489 CLINVAR
  RCV001723835 CLINVAR
dbSNP (RS) rs2043691 CLINVAR
MedGen C0268490 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene FAH CLINVAR
OMIM 276700 CLINVAR
  613871 CLINVAR
SNOMED CT 410056006 CLINVAR