RGD:28871184 Rat Genome Database

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Variant: RGD:28871184 -  Homo sapiens

RGD ID: 28871184
RS ID: rs901616183
ClinVar ID: CV899506
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGFR1  LOC127459245  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 38,325,965
GRCh38 8 38,468,447
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354368.2:c.-555G>A
NM_015850.4:c.-555G>A
NM_023105.3:c.-555G>A
NM_023106.3:c.-555G>A
More... 		01/13/2018 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:FGFR1
Accession:NM_001354368
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:
Accession:
Location:5UTRS;EXON

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

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

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

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

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

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

Gene Symbol:
Accession:
Location:INTRON

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:FGFR1
Accession:NM_001410922
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
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Location:INTRON

Gene Symbol:
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Location:INTRON

Gene Symbol:
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Location:INTRON

Gene Symbol:
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Location:INTRON

Gene Symbol:
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Location:INTRON

Gene Symbol:
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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:
Accession:
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:
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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 RCV001163851 CLINVAR
  RCV001163852 CLINVAR
  RCV001163853 CLINVAR
  RCV001163854 CLINVAR
dbSNP (RS) rs901616183 CLINVAR
MedGen C0010278 CLINVAR
  C0432122 CLINVAR
  C0432283 CLINVAR
  C1563720 CLINVAR
NCBI Gene FGFR1 CLINVAR
OMIM 136350 CLINVAR
  147950 CLINVAR
  166250 CLINVAR
  190440 CLINVAR
SNOMED CT 254144002 CLINVAR
  57219006 CLINVAR