RGD:14712525 Rat Genome Database

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Variant: RGD:14712525 -  Homo sapiens

RGD ID: 14712525
RS ID: rs376416531
ClinVar ID: CV651969
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGFR1  LOC127459222  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 38,285,863
GRCh38 8 38,428,345
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_023110.2:c.448+1G>A
LRG_993t1:c.448+1G>A
NM_001354368.2:c.175+7G>A
NM_023106.3:c.175+7G>A
More... 		12/24/2018 intron variant likely pathogenic Acrocephalosyndactyly, type 5; ACS V; Craniosynostosis, midfacial hypoplasia, and foot abnormalities; Encephalocraniocutaneous lipomatosis; Fairbank-Keats syndrome; Hartsfield syndrome; Hartsfield-Bixler-Demyer syndrome; Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate; HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO; Jackson-Weiss syndrome; Kallmann syndrome 2; Osteoglophonic dwarfism; Osteoglophonic dysplasia; Pfeiffer syndrome; Pfeiffer type acrocephalosyndactyly; Trigonocephaly 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FGFR1
Accession:NM_001174067
Location:INTRON

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Location:INTRON

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Location:INTRON

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Location:INTRON

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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:FGFR1
Accession:NM_001354370
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_015850
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_023106
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001354368
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001174064
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_023105
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:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001174063
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_023110
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:FGFR1
Accession:NM_001174066
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:12627230   PMID:16199547   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000810317 CLINVAR
  RCV002507407 CLINVAR
dbSNP (RS) rs376416531 CLINVAR
MedGen C1563720 CLINVAR
NCBI Gene FGFR1 CLINVAR
OMIM 101600 CLINVAR
  123150 CLINVAR
  136350 CLINVAR
  147950 CLINVAR
  166250 CLINVAR
  190440 CLINVAR
  613001 CLINVAR
  615465 CLINVAR
SNOMED CT 254144002 CLINVAR