Variant #0000936379 (NC_000015.9:g.65447347G>A, NM_006660.3:c.1384C>T (CLPX))

Individual ID 00438586
Chromosome 15
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.65447347G>A
DNA change (hg38) -
Published as NM_006660:c.C1384T (R462X)
ISCN -
DB-ID CLPX_000004
Variant remarks -
Reference PubMed: Hamdan 2017
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 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 2023-10-21 19:20:17 +02:00 (CEST)
Date last edited 2023-10-21 19:23:03 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLPX NM_006660.3 ?/. - c.1384C>T r.(?) p.(Arg462*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000440068 DNA SEQ;SEQ-NG - WGS - 4 Johan den Dunnen


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