RGD:11601493 Rat Genome Database

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Variant: RGD:11601493 -  Homo sapiens

RGD ID: 11601493
RS ID: rs41294351
ClinVar ID: CV309583
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGFR2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 123,238,902
GRCh38 10 121,479,388
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
NM_001320654.2:c.*469G>A
NG_012449.2:g.124071G>A
NC_000010.11:g.121479388C>T
NC_000010.10:g.123238902C>T
More... 		06/30/2018 3 prime utr 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; Craniofacial dysostosis; Craniofacial dysostosis type 1; CRANIOFACIAL DYSOSTOSIS, TYPE I; Craniosynostosis; Crouzon craniofacial dysostosis; Crouzon disease; Cutis Gyrata syndrome of Beare and Stevenson; none provided
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FGFR2
Accession:NM_022970
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:NM_001144916
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:XM_024447888
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:NM_001144914
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:XM_017015925
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:XM_024447890
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:NM_001320654
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:NM_001144918
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:NM_001320658
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:XM_006717710
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:XM_017015921
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:XM_017015924
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:NM_001144917
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:XM_006717708
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:NM_001144915
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:XM_017015920
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:XM_024447891
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:NM_000141
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:NM_023029
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:XM_024447887
Location:3UTRS;EXON

Gene Symbol:FGFR2
Accession:XM_024447889
Location:3UTRS;EXON

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

Gene Symbol:FGFR2
Accession:NM_001144919
Location:INTRON

Gene Symbol:FGFR2
Accession:NM_001144913
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000283750 CLINVAR
  RCV000313396 CLINVAR
  RCV000341116 CLINVAR
  RCV000380594 CLINVAR
  RCV000394366 CLINVAR
  RCV001675780 CLINVAR
dbSNP (RS) rs41294351 CLINVAR
MedGen C0010273 CLINVAR
  C0010278 CLINVAR
  C0175699 CLINVAR
  C1852406 CLINVAR
  C3661900 CLINVAR
  CN043619 CLINVAR
NCBI Gene FGFR2 CLINVAR
OMIM 101400 CLINVAR
  123500 CLINVAR
  123790 CLINVAR
  176943 CLINVAR
SNOMED CT 28861008 CLINVAR
  57219006 CLINVAR
  83015004 CLINVAR