Genomic variant #0000048762

Individual ID 00025746
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.49855478del
DNA change (hg38) g.50090821del
Published as del695fs>699Stop
ISCN -
DB-ID CLCN5_000074
Variant remarks -
Reference PubMed: Lloyd 1997, OMIM:var0009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLCN5 NM_000084.4 +/. 11 c.2085del r.(?) p.(Met696Trpfs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025750 DNA SSCA;SEQ - - CLCN5 1 Johan den Dunnen