RGD:156181305 Rat Genome Database

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Variant: RGD:156181305 -  Homo sapiens

RGD ID: 156181305
ClinVar ID: CV2255079
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBXO34  TBPL2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 55,903,504
GRCh38 14 55,436,786
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_199047.3:c.287A>C
NC_000014.9:g.55436786T>G
NC_000014.8:g.55903504T>G
NM_199047.2:c.383A>C
More... 		11/12/2021 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:TBPL2
Accession:NM_199047
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQEETYLELYLDQCAAQDGLAPPRSPLFSPVVPYDMYILNASNPDTAFNSNPEVKETSGDFSSVDLSFLPDEVTQENKD
QPVISKHETEENSESRSPQSRLPSPSEQDVGLGLNSSSLSNSHSQLHPGDTDSVQPSPEKPNSDSLSLASITPMTPMTPI
SECCGIVPQLQNIVSTVNLACKLDLKKIALHAKNAEYNPKRFAAVIMRIREPRTTALIFSSGKMVCTGAKSEEQSRLAAR
KYARVVQKLGFPARFLDFKIQNMVGSCDVRFPIRLEGLVLTHQQFSSYEPELFPGLIYRMVKPRIVLLIFVSGKVVLTGA
KERSEIYEAFENIYPILKGFKKA*

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

.


Database
Acc Id
Source(s)
ClinVar RCV004115714 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FBXO34 CLINVAR
  TBPL2 CLINVAR
OMIM 608964 CLINVAR
  609104 CLINVAR