RGD:11546202 Rat Genome Database

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Variant: RGD:11546202 -  Homo sapiens

RGD ID: 11546202
RS ID: rs2278202
ClinVar ID: CV253699
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGFR2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 123,243,197
GRCh38 10 121,483,683
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012449.2:g.119776C>T
NC_000010.11:g.121483683G>A
NC_000010.10:g.123243197G>A
LRG_994t1:c.2301+15C>T
More... 		01/13/2018 intron variant benign antenatal|infancy|neonatal 1-9 / 1 000 000|1-9 / 100 000|<1 / 1 000 000 Acrocephalo-syndactyly, type 3; Acrocephaly, skull asymmetry, and mild syndactyly; ACS 3; ACS III; AllHighlyPenetrant; Craniofacial dysostosis; Craniofacial dysostosis type 1; CRANIOFACIAL DYSOSTOSIS, TYPE I; Craniosynostosis; Crouzon craniofacial dysostosis; Crouzon disease; Cutis Gyrata syndrome of Beare and Stevenson
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FGFR2
Accession:NM_001144917
Location:INTRON

Gene Symbol:FGFR2
Accession:XM_024447890
Location:INTRON

Gene Symbol:FGFR2
Accession:XM_024447888
Location:INTRON

Gene Symbol:FGFR2
Accession:XM_024447889
Location:INTRON

Gene Symbol:FGFR2
Accession:NM_001144916
Location:INTRON

Gene Symbol:FGFR2
Accession:NM_001144913
Location:INTRON

Gene Symbol:FGFR2
Accession:NM_001320654
Location:INTRON

Gene Symbol:FGFR2
Accession:XM_024447891
Location:INTRON

Gene Symbol:FGFR2
Accession:NM_001144918
Location:INTRON

Gene Symbol:FGFR2
Accession:NM_022970
Location:INTRON

Gene Symbol:FGFR2
Accession:NM_001144919
Location:INTRON

Gene Symbol:FGFR2
Accession:XM_017015924
Location:INTRON

Gene Symbol:FGFR2
Accession:XM_006717708
Location:INTRON

Gene Symbol:FGFR2
Accession:XM_017015921
Location:INTRON

Gene Symbol:FGFR2
Accession:XM_017015920
Location:INTRON

Gene Symbol:FGFR2
Accession:NM_001144914
Location:INTRON

Gene Symbol:FGFR2
Accession:XM_006717710
Location:INTRON

Gene Symbol:FGFR2
Accession:XM_017015925
Location:INTRON

Gene Symbol:FGFR2
Accession:XM_024447887
Location:INTRON

Gene Symbol:FGFR2
Accession:NM_000141
Location:INTRON

Gene Symbol:FGFR2
Accession:NM_001144915
Location:INTRON

Gene Symbol:FGFR2
Accession:NM_023029
Location:INTRON

Gene Symbol:FGFR2
Accession:NM_001320658
Location:INTRON

Gene Symbol:FGFR2
Accession:NR_073009
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000246153 CLINVAR
  RCV000279204 CLINVAR
  RCV000280521 CLINVAR
  RCV000345661 CLINVAR
  RCV000378441 CLINVAR
  RCV000406599 CLINVAR
  RCV002057316 CLINVAR
dbSNP (RS) rs2278202 CLINVAR
MedGen C0010273 CLINVAR
  C0010278 CLINVAR
  C0175699 CLINVAR
  C1852406 CLINVAR
  CN043619 CLINVAR
  CN169374 CLINVAR
  CN231480 CLINVAR
NCBI Gene FGFR2 CLINVAR
OMIM 101400 CLINVAR
  123500 CLINVAR
  123790 CLINVAR
  176943 CLINVAR
SNOMED CT 28861008 CLINVAR
  57219006 CLINVAR
  83015004 CLINVAR