RGD:28905959 Rat Genome Database

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Variant: RGD:28905959 -  Homo sapiens

RGD ID: 28905959
RS ID: rs974672416
ClinVar ID: CV899497
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGFR1  LOC130000233  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 38,325,673
GRCh38 8 38,468,155
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354370.2:c.-263G>C
NM_001174064.2:c.-355G>C
LRG_993:g.5680G>C
NG_007729.1:g.5680G>C
More... 		01/12/2018 5 prime utr variant uncertain significance Craniosynostosis; Fairbank-Keats syndrome; HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO; Kallmann syndrome 2; Osteoglophonic dwarfism
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_001174063
Location:5UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_001354370
Location:5UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_001354367
Location:5UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_023106
Location:5UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_015850
Location:5UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_023105
Location:5UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_001354368
Location:5UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_023110
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_001174064
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_001174067
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001174065
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001354369
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001410922
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001174066
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001158712 CLINVAR
  RCV001158713 CLINVAR
  RCV001158714 CLINVAR
  RCV001158715 CLINVAR
dbSNP (RS) rs974672416 CLINVAR
MedGen C0010278 CLINVAR
  C0432122 CLINVAR
  C0432283 CLINVAR
  C1563720 CLINVAR
NCBI Gene FGFR1 CLINVAR
  LOC130000233 CLINVAR
OMIM 136350 CLINVAR
  147950 CLINVAR
  166250 CLINVAR
  190440 CLINVAR
SNOMED CT 254144002 CLINVAR
  57219006 CLINVAR