RGD:11631289 Rat Genome Database

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Variant: RGD:11631289 -  Homo sapiens

RGD ID: 11631289
RS ID: rs779713849
ClinVar ID: CV349115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POU3F4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 82,764,085
GRCh38 X 83,509,077
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.5817G>A
NC_000023.11:g.83509077G>A
NC_000023.10:g.82764085G>A
NP_000298.3:p.Leu251=
More... 		02/27/2018 synonymous variant benign|likely benign AllHighlyPenetrant; Deafness 3 conductive with stapes fixation; Deafness conductive with stapes fixation; Deafness mixed with perilymphatic gusher; Deafness, X-linked 2; Dfn 3 nonsyndromic hearing loss and deafness; Gusher syndrome; Nance deafness; none provided; Perilymphatic Gusher-deafness syndrome; Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POU3F4
Accession:NM_000307
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 251
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAASNPYSILSSTSLVHADSAGMQQGSPFRNPQKLLQSDYLQGVPSNGHPLGHHWVTSLSDGGPWSSTLATSPLDQQD
VKPGREDLQLGAIIHHRSPHVAHHSPHTNHPNAWGASPAPNPSITSSGQPLNVYSQPGFTVSGMLEHGGLTPPPAAASAQ
SLHPVLREPPDHGELGSHHCQDHSDEETPTSDELEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEALQL
SFKNMCKLKPLLNKWLEEADSSTGSPTSIDKIAAQGRKRKKRTSIEVSVKGVLETHFLKCPKPAAQEISSLADSLQLEKE
VVRVWFCNRRQKEKRMTPPGDQQPHEVYSHTVKTDTSCHDL*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000372706 CLINVAR
  RCV000825816 CLINVAR
  RCV003546558 CLINVAR
dbSNP (RS) rs779713849 CLINVAR
MedGen C1844678 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene POU3F4 CLINVAR
OMIM 300039 CLINVAR
  304400 CLINVAR