RGD:155949609 Rat Genome Database

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Variant: RGD:155949609 -  Homo sapiens

RGD ID: 155949609
ClinVar ID: CV2267685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGF8  LOC105378457  LOC127819012  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 103,530,124
GRCh38 10 101,770,367
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.385C>T
NM_033165.5:c.577C>T
NM_006119.6:c.610C>T
NM_033164.4:c.664C>T
More...
04/08/2022 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FGF8
Accession:NM_001206389
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDGDPFAKLIVETDTFGSRVRVRGAETGLYICMNKKGKLIAKSNGKGKDCVFTEIVLENNYTALQNAKYEGWYMAFTR
KGRPRKGSKTRQHQREVHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLCGSQRTWAPEPR*

Gene Symbol:FGF8
Accession:NM_033165
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSPRSALSCLLLHLLVLCLQAQHVREQSLVTDQLSRRLIRTYQLYSRTSGKHVQVLANKRINAMAEDGDPFAKLIVETD
TFGSRVRVRGAETGLYICMNKKGKLIAKSNGKGKDCVFTEIVLENNYTALQNAKYEGWYMAFTRKGRPRKGSKTRQHQRE
VHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLCGSQRTWAPEPR*

Gene Symbol:FGF8
Accession:NM_006119
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSPRSALSCLLLHLLVLCLQAQVTVQSSPNFTQHVREQSLVTDQLSRRLIRTYQLYSRTSGKHVQVLANKRINAMAEDG
DPFAKLIVETDTFGSRVRVRGAETGLYICMNKKGKLIAKSNGKGKDCVFTEIVLENNYTALQNAKYEGWYMAFTRKGRPR
KGSKTRQHQREVHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLCGSQRTWAPEPR*

Gene Symbol:FGF8
Accession:NM_033164
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSPRSALSCLLLHLLVLCLQAQEGPGRGPALGRELASLFRAGREPQGVSQQHVREQSLVTDQLSRRLIRTYQLYSRTSG
KHVQVLANKRINAMAEDGDPFAKLIVETDTFGSRVRVRGAETGLYICMNKKGKLIAKSNGKGKDCVFTEIVLENNYTALQ
NAKYEGWYMAFTRKGRPRKGSKTRQHQREVHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLCGSQRTWAPEPR*

Gene Symbol:FGF8
Accession:NM_033163
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSPRSALSCLLLHLLVLCLQAQEGPGRGPALGRELASLFRAGREPQGVSQQVTVQSSPNFTQHVREQSLVTDQLSRRLI
RTYQLYSRTSGKHVQVLANKRINAMAEDGDPFAKLIVETDTFGSRVRVRGAETGLYICMNKKGKLIAKSNGKGKDCVFTE
IVLENNYTALQNAKYEGWYMAFTRKGRPRKGSKTRQHQREVHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLCGSQRTWA
PEPR*

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002840223 CLINVAR
  RCV003777821 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene FGF8 CLINVAR
OMIM 600483 CLINVAR