Variant #0000455035 (NC_000011.9:g.68676100G>A, IGHMBP2(NM_002180.2):c.547+1G>A)

Individual ID 00219063
Chromosome 11
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.68676100G>A
DNA change (hg38) g.68908632G>A
Published as -
ISCN -
DB-ID IGHMBP2_000169 See all 2 reported entries
Variant remarks ACMG pvs1, pm2
Reference PubMed: Dohrn 2017, Journal: Dohrn 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 1/612 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGHMBP2 NM_002180.2 +/. - c.547+1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220135 DNA SEQ;SEQ-NG - targeted multigene panel IGHMBP2 2 Johan den Dunnen