Variant #0000817706 (NC_000004.11:g.6290807_6290822dup, WFS1(NM_006005.3):c.409_424dup)

Individual ID 00387682
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6290807_6290822dup
DNA change (hg38) g.6289080_6289095dup
Published as WFS1 c.409_424dup16; c.409_424dup16
ISCN -
DB-ID WFS1_000403 See all 3 reported entries
Variant remarks no protein change given, homozygous
Reference PubMed: Zanolli 2020
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WFS1 NM_006005.3 +?/. - c.409_424dup r.(?) p.(Val142GlyfsTer110)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000388908 DNA SEQ-NG blood targeted sequencing WFS1 1 LOVD