Variant #0000787099 (NC_000011.9:g.(?_68696651)_(68707199_?)del, IGHMBP2(NM_002180.2):c.(1060+1_1061-1)_(*1_?)del)

Individual ID 00374554
Chromosome 11
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.(?_68696651)_(68707199_?)del
DNA change (hg38) -
Published as chr11:68696651-?_68707199+?del
ISCN -
DB-ID IGHMBP2_000228
Variant remarks -
Reference PubMed: Ganapathy 2019
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     
IGHMBP2 NM_002180.2 +?/. 7i_15_ c.(1060+1_1061-1)_(*1_?)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375748 DNA SEQ-NG - TruSight One panel IGHMBP2 1 Johan den Dunnen