RGD:13533985 Rat Genome Database

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Variant: RGD:13533985 -  Homo sapiens

RGD ID: 13533985
RS ID: rs757999433
ClinVar ID: CV500811
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGFR3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 1,803,486
GRCh38 4 1,801,759
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000142.5:c.739+16C>T
NM_001163213.2:c.739+16C>T
LRG_1021t1:c.739+16C>T
LRG_1021:g.13448C>T
More... 		10/05/2023 intron variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:FGFR3
Accession:NM_001163213
Location:INTRON

Gene Symbol:FGFR3
Accession:NM_001354809
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_047449820
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_047449824
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_006713868
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_047449822
Location:INTRON

Gene Symbol:FGFR3
Accession:NM_022965
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_006713873
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_006713869
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_006713871
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_006713870
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_047449823
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_011513420
Location:INTRON

Gene Symbol:FGFR3
Accession:NM_000142
Location:INTRON

Gene Symbol:FGFR3
Accession:NM_001354810
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_047449821
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_011513422
Location:INTRON

Gene Symbol:FGFR3
Accession:NR_148971
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000607240 CLINVAR
  RCV002232736 CLINVAR
dbSNP (RS) rs757999433 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene FGFR3 CLINVAR
OMIM 134934 CLINVAR