Variant #0000643144 (NC_000023.10:g.(?_154487526)_(154509358_154528097)del, RAB39B(NM_171998.2):c.-279_*2562[0])

Individual ID 00286192
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_154487526)_(154509358_154528097)del
DNA change (hg38) g.(?_155258241)_(155280069_155298784)del
Published as -
ISCN -
DB-ID RAB39B_000010 See all 3 reported entries
Variant remarks -
Reference PubMed: Wilsoni 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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     
CLIC2 NM_001289.4 +?/. 3i_6_ c.293+1_294-1_*1692[0] r.? p.?
RAB39B NM_171998.2 +/. _1_2_ c.-279_*2562[0] r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000287353 DNA arraySNP - - RAB39B 1 Johan den Dunnen