Variant #0000443217 (NC_000023.10:g.24521459G>C, PDK3(NM_005391.4):c.336G>C)

Individual ID 00210545
Chromosome X
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.24521459G>C
DNA change (hg38) g.24503342G>C
Published as p.L112L
ISCN -
DB-ID PDK3_000001
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-04-08 14:01:02 +02:00 (CEST)
Date last edited 2009-05-19 12:33:15 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDK3 NM_005391.4 -?/. 4 c.336G>C r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211621 DNA SEQ - - PDK3 1 Johan den Dunnen