Variant #0000048706 (NC_000023.10:g.49846378_49846379dup, CLCN5(NM_000084.4):c.597_598dup)

Individual ID 00025711
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.49846378_49846379dup
DNA change (hg38) g.50081721_50081722dup
Published as -
ISCN -
DB-ID CLCN5_000020
Variant remarks -
Reference PubMed: Mansour-Hendili et al. 2015
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Rosa Vargas-Poussou
Database submission license No license selected
Created by Rosa Vargas-Poussou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLCN5 NM_000084.4 +/. 6 c.597_598dup r.(?) p.(Leu200Argfs*8)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025715 DNA SEQ - - CLCN5 1 Rosa Vargas-Poussou