RGD:8598159 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:8598159 -  Homo sapiens

RGD ID: 8598159
RS ID: rs137852660
ClinVar ID: CV24161
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGF8  LOC127819014  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 103,534,966
GRCh38 10 101,775,209
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_007151.1:g.5862C>T
NC_000010.11:g.101775209G>A
NC_000010.10:g.103534966G>A
NP_149353.1:p.Pro26Leu
More...
12/31/2019 intron|intron variant|missense variant pathogenic|conflicting interpretations of pathogenicity|uncertain significance 1-9 / 100 000 AllHighlyPenetrant; HYPOGONADOTROPIC HYPOGONADISM 6 WITH ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 6 WITHOUT ANOSMIA; Kallmann syndrome 6; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FGF8
Accession:NM_001206389
Location:5UTRS;INTRON

Gene Symbol:FGF8
Accession:NM_033164
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSPRSALSCLLLHLLVLCLQAQEGLGRGPALGRELASLFRAGREPQGVSQQHVREQSLVTDQLSRRLIRTYQLYSRTSG
KHVQVLANKRINAMAEDGDPFAKLIVETDTFGSRVRVRGAETGLYICMNKKGKLIAKSNGKGKDCVFTEIVLENNYTALQ
NAKYEGWYMAFTRKGRPRKGSKTRQHQREVHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLRGSQRTWAPEPR*

Gene Symbol:FGF8
Accession:NM_033163
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSPRSALSCLLLHLLVLCLQAQEGLGRGPALGRELASLFRAGREPQGVSQQVTVQSSPNFTQHVREQSLVTDQLSRRLI
RTYQLYSRTSGKHVQVLANKRINAMAEDGDPFAKLIVETDTFGSRVRVRGAETGLYICMNKKGKLIAKSNGKGKDCVFTE
IVLENNYTALQNAKYEGWYMAFTRKGRPRKGSKTRQHQREVHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLRGSQRTWA
PEPR*

Gene Symbol:FGF8
Accession:NM_033165
Location:INTRON

Gene Symbol:FGF8
Accession:NM_006119
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18596921   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009692 CLINVAR
  RCV000239300 CLINVAR
  RCV000767027 CLINVAR
dbSNP (RS) rs137852660 CLINVAR
MedGen C3552574 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene FGF8 CLINVAR
OMIM 600483 CLINVAR
  612702 CLINVAR
OMIM Allele 600483.0002 CLINVAR