RGD:11658942 Rat Genome Database

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Variant: RGD:11658942 -  Homo sapiens

RGD ID: 11658942
RS ID: rs886046643
ClinVar ID: CV320356
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBXW4  LOC130004563  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 103,454,370
GRCh38 10 101,694,613
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008091.1:g.5374G>A
NC_000010.11:g.101694613C>T
NC_000010.10:g.103454370C>T
NM_022039.4:c.493G>A
More... 		06/14/2016 intron variant uncertain significance Buttiens Fryns syndrome; CHROMOSOME 10q24 DUPLICATION SYNDROME; Limb deficiencies distal with micrognathia; SHSF3
Disease Annotations     Click to see Annotation Detail View


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: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSQGRSGPPGNGGPGEGEGGEARKLQEGRVARGKRRKGKGKGKARAGQGGRGSGAEGKPGPQTAKEAAGPGADAGARAC
PREEAEGGRSVEEGARGIVKGVEGSAGAGKEAQGREYGKKEEWRVRARRREGARPGRAQGRGGQAWADIAGTGVAMAAAA
GEEEKEEEAARESAARPAAGPALWRLPEELLLLICSYLDMRALGRLAQVCRWLRRFTSCDLLWRRIARASLNSGFTRLGT
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 RCV000353355 CLINVAR
dbSNP (RS) rs886046643 CLINVAR
MedGen C1838652 CLINVAR
NCBI Gene FBXW4 CLINVAR
  LOC130004563 CLINVAR
OMIM 246560 CLINVAR
  608071 CLINVAR