Variant #0000048763 (NC_000023.10:g.49834667_49834668insAAC, CLCN5(NM_000084.4):c.87_88insAAC)

Individual ID 00025747
Chromosome X
Allele Parent #1
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.49834667_49834668insAAC
DNA change (hg38) g.50070012_50070013insAAC
Published as AAC in frame 30:H
ISCN -
DB-ID CLCN5_000075
Variant remarks -
Reference PubMed: Lloyd 1997
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLCN5 NM_000084.4 +/. 2 c.87_88insAAC r.(?) p.(Asp29_Arg30insHis)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025751 DNA SEQ - - CLCN5 1 Johan den Dunnen