RGD:28909487 Rat Genome Database

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Variant: RGD:28909487 -  Homo sapiens

RGD ID: 28909487
RS ID: rs763095219
ClinVar ID: CV865494
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGFR2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 123,239,115
GRCh38 10 121,479,601
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001144916.2:c.*256G>A
NM_001320654.2:c.*256G>A
NM_001144915.2:c.2104G>A
NM_001144914.1:c.*256G>A
More... 		01/13/2018 3 prime utr variant uncertain significance 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
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FGFR2
Accession:XM_017015924
Location:3UTRS;EXON

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

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

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

Gene Symbol:FGFR2
Accession:XM_024447891
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:NM_022970
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

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

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

Gene Symbol:FGFR2
Accession:NM_001144915
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 702
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEDAISSGDDEDDTDGAEDFVSENSNNKRAPYWTNTEKMEKRLHAV
PAANTVKFRCPAGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENEYGSINHTYHLDVV
ERSPHRPILQAGLPANASTVVGGDVEFVCKVYSDAQPHIQWIKHVEKNGSKYGPDGLPYLKVLKAAGVNTTDKEIEVLYI
RNVTFEDAGEYTCLAGNSIGISFHSAWLTVLPAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDF
SSQPAVHKLTKRIPLRRQVTVSAESSSSMNSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDKLTLGKPLGE
GCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASK
GNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQKCIHRDLAARNVLVTENNVMKIADFGLAR
DINNIDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCT
NELYMMMRDCWHAVPSQRPTFKQLVEDLDRILTLTTNEEEKKVSGAVDCHKPPCNPSHLPCILAVDQ*

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 References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001108414 CLINVAR
  RCV001108415 CLINVAR
  RCV001108416 CLINVAR
  RCV001108417 CLINVAR
  RCV001108418 CLINVAR
  RCV003898101 CLINVAR
dbSNP (RS) rs763095219 CLINVAR
MedGen C0010273 CLINVAR
  C0010278 CLINVAR
  C0175699 CLINVAR
  C1852406 CLINVAR
  CN043619 CLINVAR
NCBI Gene FGFR2 CLINVAR
OMIM 101400 CLINVAR
  123500 CLINVAR
  123790 CLINVAR
  176943 CLINVAR
SNOMED CT 28861008 CLINVAR
  57219006 CLINVAR
  83015004 CLINVAR