RGD:8606177 Rat Genome Database

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Variant: RGD:8606177 -  Homo sapiens

RGD ID: 8606177
RS ID: rs111033291
ClinVar ID: CV52524
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POU3F4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 82,764,296
GRCh38 X 83,509,288
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009936.2:g.6028G>A
NC_000023.11:g.83509288G>A
NC_000023.10:g.82764296G>A
NM_000307.3:c.964G>A
More... 		03/25/2011 missense|missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:POU3F4
Accession:NM_000307
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAASNPYSILSSTSLVHADSAGMQQGSPFRNPQKLLQSDYLQGVPSNGHPLGHHWVTSLSDGGPWSSTLATSPLDQQD
VKPGREDLQLGAIIHHRSPHVAHHSPHTNHPNAWGASPAPNPSITSSGQPLNVYSQPGFTVSGMLEHGGLTPPPAAASAQ
SLHPVLREPPDHGELGSHHCQDHSDEETPTSDELEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEALQL
SFKNMCKLKPLLNKWLEEADSSTGSPTSIDKIAAQGRKRKKRTSIEVSVKGVLETHFLKCPKPAAQEISSLADSLQLEKE
VMRVWFCNRRQKEKRMTPPGDQQPHEVYSHTVKTDTSCHDL*
Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000036262 CLINVAR
dbSNP (RS) rs111033291 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene POU3F4 CLINVAR
OMIM 300039 CLINVAR