Variant #0000180505 (NC_000007.13:g.143042832del, CLCN1(NM_000083.2):c.2149del)

Individual ID 00111994
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.143042832del
DNA change (hg38) g.143345739del
Published as -
ISCN -
DB-ID CLCN1_000140
Variant remarks -
Reference Plassart-Schiess 1998
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLCN1 NM_000083.2 +/+ 17 c.2149del r.(?) p.(Glu717*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112570 DNA SEQ - - CLCN1 1 Johan den Dunnen