Variant #0000179632 (NC_000007.13:g.143020411G>C, CLCN1(NM_000083.2):c.706G>C)

Individual ID 00111745
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.143020411G>C
DNA change (hg38) g.143323318G>C
Published as -
ISCN -
DB-ID CLCN1_000043 See all 2 reported entries
Variant remarks -
Reference Kubisch 1998 ref func:Kubisch 1998
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 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 +/+ 6 c.706G>C r.(?) p.(Val236Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112371 DNA SEQ - - CLCN1 1 Johan den Dunnen