RGD:21070449 Rat Genome Database

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Variant: RGD:21070449 -  Homo sapiens

RGD ID: 21070449
RS ID: rs867468579
ClinVar ID: CV798262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDK3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 24,521,608
GRCh38 X 24,503,491
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005391.5:c.485G>A
NM_001142386.3:c.485G>A
NP_001135858.1:p.Arg162His
NM_001142386.2:c.485G>A
More...
03/24/2022 missense variant uncertain significance CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDK3
Accession:NM_001142386
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLFRWLLKQPVPKQIERYSRFSPSPLSIKQFLDFGRDNACEKTSYMFLRKELPVRLANTMREVNLLPDNLLNRPSVGLV
QSWYMQSFLELLEYENKSPEDPQVLDNFLQVLIKVRNRHNDVVPTMAQGVIEYKEKFGFDPFISTNIQYFLDRFYTNRIS
FHMLINQHTLLFGGDTNPVHPKHIGSIDPTCNVADVVKDAYETAKMLCEQYYLVAPELEVEEFNAKAPDKPIQVVYVPSH
LFHMLFELFKNSMRATVELYEDRKEGYPAVKTLVTLGKEDLSIKISDLGGGVPLRKIDRLFNYMYSTAPRPSLEPTRAAP
LAGFGYGLPISRLYARYFQGDLKLYSMEGVGTDAVIYLKALSSESFERLPVFNKSAWRHYKTTPEADDWSNPSSEPRDAS
KYKAKQDKIKTNRTF*

Gene Symbol:PDK3
Accession:NM_005391
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLFRWLLKQPVPKQIERYSRFSPSPLSIKQFLDFGRDNACEKTSYMFLRKELPVRLANTMREVNLLPDNLLNRPSVGLV
QSWYMQSFLELLEYENKSPEDPQVLDNFLQVLIKVRNRHNDVVPTMAQGVIEYKEKFGFDPFISTNIQYFLDRFYTNRIS
FHMLINQHTLLFGGDTNPVHPKHIGSIDPTCNVADVVKDAYETAKMLCEQYYLVAPELEVEEFNAKAPDKPIQVVYVPSH
LFHMLFELFKNSMRATVELYEDRKEGYPAVKTLVTLGKEDLSIKISDLGGGVPLRKIDRLFNYMYSTAPRPSLEPTRAAP
LAGFGYGLPISRLYARYFQGDLKLYSMEGVGTDAVIYLKALSSESFERLPVFNKSAWRHYKTTPEADDWSNPSSEPRDAS
KYKAKQ*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000999356 CLINVAR
  RCV001211863 CLINVAR
dbSNP (RS) rs867468579 CLINVAR
MedGen C3661900 CLINVAR
  C3806702 CLINVAR
NCBI Gene PDK3 CLINVAR
OMIM 300905 CLINVAR
  300906 CLINVAR