RGD:150551662 Rat Genome Database

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Variant: RGD:150551662 -  Homo sapiens

RGD ID: 150551662
RS ID: rs774080225
ClinVar ID: CV1297497
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGF8  LOC105378457  LOC127819012  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 103,530,262
GRCh38 10 101,770,505
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001206389.2:c.247C>T
NM_033165.5:c.439C>T
NM_006119.6:c.472C>T
NM_033164.4:c.526C>T
More... 		06/21/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FGF8
Accession:NM_033165
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSPRSALSCLLLHLLVLCLQAQHVREQSLVTDQLSRRLIRTYQLYSRTSGKHVQVLANKRINAMAEDGDPFAKLIVETD
TFGSRVRVRGAETGLYICMNKKGKLIAKSNGKGKDCVFTEIVLENNYTALQNAKYEGWYMAFTRKGWPRKGSKTRQHQRE
VHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLRGSQRTWAPEPR*

Gene Symbol:FGF8
Accession:NM_033164
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSPRSALSCLLLHLLVLCLQAQEGPGRGPALGRELASLFRAGREPQGVSQQHVREQSLVTDQLSRRLIRTYQLYSRTSG
KHVQVLANKRINAMAEDGDPFAKLIVETDTFGSRVRVRGAETGLYICMNKKGKLIAKSNGKGKDCVFTEIVLENNYTALQ
NAKYEGWYMAFTRKGWPRKGSKTRQHQREVHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLRGSQRTWAPEPR*

Gene Symbol:FGF8
Accession:NM_006119
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSPRSALSCLLLHLLVLCLQAQVTVQSSPNFTQHVREQSLVTDQLSRRLIRTYQLYSRTSGKHVQVLANKRINAMAEDG
DPFAKLIVETDTFGSRVRVRGAETGLYICMNKKGKLIAKSNGKGKDCVFTEIVLENNYTALQNAKYEGWYMAFTRKGWPR
KGSKTRQHQREVHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLRGSQRTWAPEPR*

Gene Symbol:FGF8
Accession:NM_033163
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSPRSALSCLLLHLLVLCLQAQEGPGRGPALGRELASLFRAGREPQGVSQQVTVQSSPNFTQHVREQSLVTDQLSRRLI
RTYQLYSRTSGKHVQVLANKRINAMAEDGDPFAKLIVETDTFGSRVRVRGAETGLYICMNKKGKLIAKSNGKGKDCVFTE
IVLENNYTALQNAKYEGWYMAFTRKGWPRKGSKTRQHQREVHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLRGSQRTWA
PEPR*

Gene Symbol:FGF8
Accession:NM_001206389
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDGDPFAKLIVETDTFGSRVRVRGAETGLYICMNKKGKLIAKSNGKGKDCVFTEIVLENNYTALQNAKYEGWYMAFTR
KGWPRKGSKTRQHQREVHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLRGSQRTWAPEPR*

Gene Symbol:LOC105378457
Accession:XR_946253
Location:INTRON;NON-CODING

Gene Symbol:LOC105378457
Accession:XR_007062268
Location:INTRON;NON-CODING

Gene Symbol:LOC105378457
Accession:XR_946252
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001767181 CLINVAR
dbSNP (RS) rs774080225 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FGF8 CLINVAR
OMIM 600483 CLINVAR