Variant #0000048710 (NC_000023.10:g.49846497G>C, CLCN5(NM_000084.4):c.716G>C)

Individual ID 00025709
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.49846497G>C
DNA change (hg38) g.50081840G>C
Published as -
ISCN -
DB-ID CLCN5_000028
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.716G>C r.(?) p.(Arg239Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025713 DNA SEQ - - CLCN5 1 Rosa Vargas-Poussou