Variant #0000714453 (NC_000023.10:g.49850994T>A, CLCN5(NM_000084.4):c.814T>A)

Individual ID 00328815
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.49850994T>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID CLCN5_000151
Variant remarks -
Reference PubMed: Sekine 2014
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
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 +?/+? 8 c.814T>A r.814T>A p.(Tyr272Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000330031 DNA SEQ - - CLCN5 1 Rosa Vargas-Poussou