RGD:8691109 Rat Genome Database

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Variant: RGD:8691109 -  Homo sapiens

RGD ID: 8691109
RS ID: rs2297085
ClinVar ID: CV141068
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBP1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 97,369,105
GRCh38 9 94,606,823
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008174.1:g.38427T>A
NC_000009.12:g.94606823A>T
NC_000009.11:g.97369105A>T
NP_001121100.1:p.Phe233Ile
More... 		12/31/2019 missense variant benign|likely benign AllHighlyPenetrant; 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:NM_001127628
Location:EXON
Amino Acid Prediction: F to I (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADQAPFDTDVNTLTRFVMEEGRKARGTGELTQLLNSLCTAVKAISSAVRKAGIAHLYGIAGSTNVTGDQVKKLDVLSND
LVMNMLKSSFATCVLVSEEDKHAIIVEPEKRGKYVVCFDPLDGSSNIDCLVSVGTIFGIYRKKSTDEPSEKDALQPGRNL
VAAGYALYGSATMLVLAMDCGVNCFMLDPAIGEFILVDKDVKIKKKGKIYSLNEGYARDFDPAVTEYIQRKKIPPDNSAP
YGARYVGSMVADVHRTLVYGGIFLYPANKKSPNGKLRLLYECNPMAYVMEKAGGMATTGKEAVLDVIPTDIHQRAPVILG
SPDDVLEFLKVYEKHSAQ*

Gene Symbol:FBP1
Accession:NM_000507
Location:EXON
Amino Acid Prediction: F to I (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADQAPFDTDVNTLTRFVMEEGRKARGTGELTQLLNSLCTAVKAISSAVRKAGIAHLYGIAGSTNVTGDQVKKLDVLSND
LVMNMLKSSFATCVLVSEEDKHAIIVEPEKRGKYVVCFDPLDGSSNIDCLVSVGTIFGIYRKKSTDEPSEKDALQPGRNL
VAAGYALYGSATMLVLAMDCGVNCFMLDPAIGEFILVDKDVKIKKKGKIYSLNEGYARDFDPAVTEYIQRKKIPPDNSAP
YGARYVGSMVADVHRTLVYGGIFLYPANKKSPNGKLRLLYECNPMAYVMEKAGGMATTGKEAVLDVIPTDIHQRAPVILG
SPDDVLEFLKVYEKHSAQ*

Gene Symbol:FBP1
Accession:XM_006717005
Location:EXON
Amino Acid Prediction: F to I (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNMLKSSFATCVLVSEEDKHAIIVEPEKRGKYVVCFDPLDGSSNIDCLVSVGTIFGIYRKKSTDEPSEKDALQPGRNLVA
AGYALYGSATMLVLAMDCGVNCFMLDPAIGEFILVDKDVKIKKKGKIYSLNEGYARDFDPAVTEYIQRKKIPPDNSAPYG
ARYVGSMVADVHRTLVYGGIFLYPANKKSPNGKLRLLYECNPMAYVMEKAGGMATTGKEAVLDVIPTDIHQRAPVILGSP
DDVLEFLKVYEKHSAQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000125097 CLINVAR
  RCV000631045 CLINVAR
dbSNP (RS) rs2297085 CLINVAR
MedGen C0016756 CLINVAR
  CN169374 CLINVAR
NCBI Gene FBP1 CLINVAR
OMIM 229700 CLINVAR
  611570 CLINVAR
SNOMED CT 28183005 CLINVAR