RGD:152028965 Rat Genome Database

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Variant: RGD:152028965 -  Homo sapiens

RGD ID: 152028965
RS ID: rs1171714073
ClinVar ID: CV1555594
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGFR1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 38,282,231
GRCh38 8 38,424,713
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.473-14C>G
NM_001354370.2:c.473-14C>G
NM_023106.3:c.473-14C>G
NM_001174067.2:c.839-14C>G
More... 		08/23/2021 intron variant likely benign Acrocephalosyndactyly, type 5; ACS V; HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO; Kallmann syndrome 2; Pfeiffer syndrome; Pfeiffer type acrocephalosyndactyly
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FGFR1
Accession:NM_023106
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_023105
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_015850
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001174063
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_023110
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001174064
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001174066
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001174065
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:
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

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001354368
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001354370
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001354367
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

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001410922
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002186010 CLINVAR
dbSNP (RS) rs1171714073 CLINVAR
MedGen C1563720 CLINVAR
NCBI Gene FGFR1 CLINVAR
OMIM 101600 CLINVAR
  136350 CLINVAR
  147950 CLINVAR