RGD:38467571 Rat Genome Database

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Variant: RGD:38467571 -  Homo sapiens

RGD ID: 38467571
RS ID: rs201109489
ClinVar ID: CV921010
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDK3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 24,552,105
GRCh38 X 24,533,988
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142386.3:c.1137T>C
NM_005391.5:c.1137T>C
NG_016762.1:g.73762T>C
NC_000023.11:g.24533988T>C
More... 		05/01/2020 synonymous variant likely benign 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: H to H (synonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLFRWLLKQPVPKQIERYSRFSPSPLSIKQFLDFGRDNACEKTSYMFLRKELPVRLANTMREVNLLPDNLLNRPSVGLV
QSWYMQSFLELLEYENKSPEDPQVLDNFLQVLIKVRNRHNDVVPTMAQGVIEYKEKFGFDPFISTNIQYFLDRFYTNRIS
FRMLINQHTLLFGGDTNPVHPKHIGSIDPTCNVADVVKDAYETAKMLCEQYYLVAPELEVEEFNAKAPDKPIQVVYVPSH
LFHMLFELFKNSMRATVELYEDRKEGYPAVKTLVTLGKEDLSIKISDLGGGVPLRKIDRLFNYMYSTAPRPSLEPTRAAP
LAGFGYGLPISRLYARYFQGDLKLYSMEGVGTDAVIYLKALSSESFERLPVFNKSAWRHYKTTPEADDWSNPSSEPRDAS
KYKAKQDKIKTNRTF*

Gene Symbol:PDK3
Accession:NM_005391
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLFRWLLKQPVPKQIERYSRFSPSPLSIKQFLDFGRDNACEKTSYMFLRKELPVRLANTMREVNLLPDNLLNRPSVGLV
QSWYMQSFLELLEYENKSPEDPQVLDNFLQVLIKVRNRHNDVVPTMAQGVIEYKEKFGFDPFISTNIQYFLDRFYTNRIS
FRMLINQHTLLFGGDTNPVHPKHIGSIDPTCNVADVVKDAYETAKMLCEQYYLVAPELEVEEFNAKAPDKPIQVVYVPSH
LFHMLFELFKNSMRATVELYEDRKEGYPAVKTLVTLGKEDLSIKISDLGGGVPLRKIDRLFNYMYSTAPRPSLEPTRAAP
LAGFGYGLPISRLYARYFQGDLKLYSMEGVGTDAVIYLKALSSESFERLPVFNKSAWRHYKTTPEADDWSNPSSEPRDAS
KYKAKQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001200314 CLINVAR
  RCV002560274 CLINVAR
dbSNP (RS) rs201109489 CLINVAR
MedGen C3661900 CLINVAR
  C3806702 CLINVAR
NCBI Gene PDK3 CLINVAR
OMIM 300905 CLINVAR
  300906 CLINVAR