RGD:11640820 Rat Genome Database

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Variant: RGD:11640820 -  Homo sapiens

RGD ID: 11640820
RS ID: rs867314622
ClinVar ID: CV272566
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBXW4  LOC130004563  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 103,454,364
GRCh38 10 101,694,607
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001323541.2:c.-2+633G>A
NG_008091.1:g.5380G>A
NC_000010.11:g.101694607C>T
NC_000010.10:g.103454364C>T
More... 		06/12/2018 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FBXW4
Accession:NM_001323541
Location:5UTRS;INTRON

Gene Symbol:FBXW4
Accession:NM_022039
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSQGRSGPPGNGGPGEGEGGEARKLQEGRVARGKRRKGKGKGKARAGQGGRGSGAEGKPGPQTAKEAAGPGADAGARAC
PREEAEGGRSVEEGARGIVKGVEGSAGAGKEAQGREYGKKEEWRVRARRREGARPGRAQGRGGQAWADIAGTGVAMAAAA
GEEEEEKEAARESAARPAAGPALWRLPEELLLLICSYLDMRALGRLAQVCRWLRRFTSCDLLWRRIARASLNSGFTRLGT
DLMTSVPVKERVKVSQNWRLGRCREGILLKWRCSQMPWMQLEDDSLYISQANFILAYQFRPDGASLNRRPLGVFAGHDED
VCHFVLANSHIVSAGGDGKIGIHKIHSTFTVKYSAHEQEVNCVDCKGGIIVSGSRDRTAKVWPLASGRLGQCLHTIQTED
RVWSIAISPLLSSFVTGTACCGHFSPLRIWDLNSGQLMTHLGSDFPPGAGVLDVMYESPFTLLSCGYDTYVRYWDLRTSV
RKCVMEWEEPHDSTLYCLQTDGNHLLATGSSYYGVVRLWDRRQRACLHAFPLTSTPLSSPVYCLRLTTKHLYAALSYNLH
VLDFQNP*

Gene Symbol:FBXW4
Accession:NR_136613
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000345811 CLINVAR
dbSNP (RS) rs867314622 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene FBXW4 CLINVAR
  LOC130004563 CLINVAR
OMIM 608071 CLINVAR