RGD:9589267 Rat Genome Database

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Variant: RGD:9589267 -  Homo sapiens

RGD ID: 9589267
RS ID: rs267606974
ClinVar ID: CV166083
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: POU3F4  
Reference Nucleotide: A
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 X 82,764,227
GRCh38 X 83,509,219
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NP_000298.2:p.LEU298TER
NC_000023.10:g.82764228del
NM_000307.4:c.896delA
NP_000298.3:p.Lys299fs
More... 		09/12/2013 frameshift variant pathogenic|not provided neonatal/infancy 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; 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: K to S (nonsynonymous)
Amino Acid Position: 299
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAASNPYSILSSTSLVHADSAGMQQGSPFRNPQKLLQSDYLQGVPSNGHPLGHHWVTSLSDGGPWSSTLATSPLDQQD
VKPGREDLQLGAIIHHRSPHVAHHSPHTNHPNAWGASPAPNPSITSSGQPLNVYSQPGFTVSGMLEHGGLTPPPAAASAQ
SLHPVLREPPDHGELGSHHCQDHSDEETPTSDELEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEALQL
SFKNMCKLKPLLNKWLEEADSSTGSPTSIDKIAAQGRKRKKRTSIEVSVKGVLETHFLSCPKPAAQEISSLADSLQLEKE
VVRVWFCNRRQKEKRMTPPGDQQPHEVYSHTVKTDTSCHDL*
Variant Samples
Additional References at PubMed
PMID:7839145  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144387 CLINVAR
dbSNP (RS) rs267606974 CLINVAR
MedGen C1844678 CLINVAR
NCBI Gene POU3F4 CLINVAR
OMIM 300039 CLINVAR
  304400 CLINVAR
OMIM Allele 300039.0001 CLINVAR