RGD:402505125 Rat Genome Database

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Variant: RGD:402505125 -  Homo sapiens

RGD ID: 402505125
ClinVar ID: CV2902764
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 97,382,784
GRCh38 9 94,620,502
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000507.4:c.171-11G>A
NM_001127628.2:c.171-11G>A
NG_008174.1:g.24748G>A
NC_000009.12:g.94620502C>T
More... 		09/05/2023 intron variant likely benign Baker-Winegrad disease; Fructose 1,6 Bisphosphatase Deficiency; Fructose-1,6-Diphosphatase Deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FBP1
Accession:XM_006717005
Location:5UTRS;INTRON

Gene Symbol:FBP1
Accession:NM_001127628
Location:INTRON

Gene Symbol:FBP1
Accession:NM_000507
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003494886 CLINVAR
MedGen C0016756 CLINVAR
NCBI Gene FBP1 CLINVAR
OMIM 229700 CLINVAR
  611570 CLINVAR
SNOMED CT 28183005 CLINVAR