RGD:405791405 Rat Genome Database

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Variant: RGD:405791405 -  Homo sapiens

RGD ID: 405791405
ClinVar ID: CV3335470
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBXO34  TBPL2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 55,907,217
GRCh38 14 55,440,499
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_199047.3:c.-50C>G
NC_000014.9:g.55440499G>C
NC_000014.8:g.55907217G>C
NM_199047.2:c.47C>G
 12/20/2023 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TBPL2
Accession:NM_199047
Location:5UTRS;EXON

Gene Symbol:FBXO34
Accession:NM_017943
Location:INTRON

Gene Symbol:FBXO34
Accession:NM_152231
Location:INTRON

Gene Symbol:FBXO34
Accession:XM_006720185
Location:INTRON

Gene Symbol:FBXO34
Accession:XM_017021391
Location:INTRON

Gene Symbol:FBXO34
Accession:XM_017021393
Location:INTRON

Gene Symbol:FBXO34
Accession:XR_007064026
Location:INTRON;NON-CODING

Gene Symbol:FBXO34
Accession:XR_007064028
Location:INTRON;NON-CODING

Gene Symbol:FBXO34
Accession:XR_007064027
Location:INTRON;NON-CODING

Gene Symbol:FBXO34
Accession:XR_007064025
Location:INTRON;NON-CODING

Gene Symbol:FBXO34
Accession:XR_007064023
Location:INTRON;NON-CODING

Gene Symbol:FBXO34
Accession:XR_007064022
Location:INTRON;NON-CODING

Gene Symbol:FBXO34
Accession:XR_007064024
Location:INTRON;NON-CODING

Gene Symbol:FBXO34
Accession:XR_007064021
Location:INTRON;NON-CODING

Gene Symbol:FBXO34
Accession:XR_007064020
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004474232 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FBXO34 CLINVAR
  TBPL2 CLINVAR
OMIM 608964 CLINVAR
  609104 CLINVAR