RGD:28873623 Rat Genome Database

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Variant: RGD:28873623 -  Homo sapiens

RGD ID: 28873623
RS ID: rs17182414
ClinVar ID: CV900486
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGFR1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 38,274,947
GRCh38 8 38,417,429
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.1280-13G>A
NM_001354369.2:c.1541-13G>A
NM_001354368.2:c.1274-13G>A
NM_023106.3:c.1280-13G>A
More... 		01/13/2018 intron variant benign|likely benign Acrocephalosyndactyly, type 5; ACS V; 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; none provided; Osteoglophonic dwarfism; Pfeiffer syndrome; Pfeiffer type acrocephalosyndactyly
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
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_001354367
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001410922
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_015850
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001174064
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_023110
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001174066
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001354370
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_023106
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_023105
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001174067
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001354368
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001174063
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:
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:
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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001164979 CLINVAR
  RCV001164980 CLINVAR
  RCV001164981 CLINVAR
  RCV001164982 CLINVAR
  RCV001514202 CLINVAR
  RCV003737010 CLINVAR
dbSNP (RS) rs17182414 CLINVAR
MedGen C0010278 CLINVAR
  C0432122 CLINVAR
  C0432283 CLINVAR
  C1563720 CLINVAR
  C3661900 CLINVAR
NCBI Gene FGFR1 CLINVAR
OMIM 101600 CLINVAR
  136350 CLINVAR
  147950 CLINVAR
  166250 CLINVAR
  190440 CLINVAR
SNOMED CT 254144002 CLINVAR
  57219006 CLINVAR