RGD:13467759 Rat Genome Database

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Variant: RGD:13467759 -  Homo sapiens

RGD ID: 13467759
RS ID: rs1165981822
ClinVar ID: CV472115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDK3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 24,523,382
GRCh38 X 24,505,265
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016762.1:g.45039G>A
NC_000023.11:g.24505265G>A
NC_000023.10:g.24523382G>A
NP_001135858.1:p.Asp188Asn
More... 		02/12/2019 missense variant uncertain significance CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDK3
Accession:NM_001142386
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLFRWLLKQPVPKQIERYSRFSPSPLSIKQFLDFGRDNACEKTSYMFLRKELPVRLANTMREVNLLPDNLLNRPSVGLV
QSWYMQSFLELLEYENKSPEDPQVLDNFLQVLIKVRNRHNDVVPTMAQGVIEYKEKFGFDPFISTNIQYFLDRFYTNRIS
FRMLINQHTLLFGGDTNPVHPKHIGSINPTCNVADVVKDAYETAKMLCEQYYLVAPELEVEEFNAKAPDKPIQVVYVPSH
LFHMLFELFKNSMRATVELYEDRKEGYPAVKTLVTLGKEDLSIKISDLGGGVPLRKIDRLFNYMYSTAPRPSLEPTRAAP
LAGFGYGLPISRLYARYFQGDLKLYSMEGVGTDAVIYLKALSSESFERLPVFNKSAWRHYKTTPEADDWSNPSSEPRDAS
KYKAKQDKIKTNRTF*

Gene Symbol:PDK3
Accession:NM_005391
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLFRWLLKQPVPKQIERYSRFSPSPLSIKQFLDFGRDNACEKTSYMFLRKELPVRLANTMREVNLLPDNLLNRPSVGLV
QSWYMQSFLELLEYENKSPEDPQVLDNFLQVLIKVRNRHNDVVPTMAQGVIEYKEKFGFDPFISTNIQYFLDRFYTNRIS
FRMLINQHTLLFGGDTNPVHPKHIGSINPTCNVADVVKDAYETAKMLCEQYYLVAPELEVEEFNAKAPDKPIQVVYVPSH
LFHMLFELFKNSMRATVELYEDRKEGYPAVKTLVTLGKEDLSIKISDLGGGVPLRKIDRLFNYMYSTAPRPSLEPTRAAP
LAGFGYGLPISRLYARYFQGDLKLYSMEGVGTDAVIYLKALSSESFERLPVFNKSAWRHYKTTPEADDWSNPSSEPRDAS
KYKAKQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000555849 CLINVAR
dbSNP (RS) rs1165981822 CLINVAR
MedGen C3806702 CLINVAR
NCBI Gene PDK3 CLINVAR
OMIM 300905 CLINVAR
  300906 CLINVAR