RGD:34895653 Rat Genome Database

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Variant: RGD:34895653 -  Homo sapiens

RGD ID: 34895653
RS ID: rs149052294
ClinVar ID: CV917537
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAH  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 80,465,355
GRCh38 15 80,173,013
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000137.4:c.707-1G>C
NM_001374377.1:c.707-1G>C
NM_001374380.1:c.707-1G>C
NC_000015.10:g.80173013G>C
More... 		01/29/2023 splice acceptor variant pathogenic 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_001374380
Location:INTRON

Gene Symbol:FAH
Accession:NM_001374377
Location:INTRON

Gene Symbol:FAH
Accession:NM_000137
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9101289   PMID:9633815   PMID:11754109   PMID:12203990   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001192777 CLINVAR
dbSNP (RS) rs149052294 CLINVAR
MedGen C0268490 CLINVAR
NCBI Gene FAH CLINVAR
OMIM 276700 CLINVAR
  613871 CLINVAR
SNOMED CT 410056006 CLINVAR