Variant #0000443056 (NC_000011.9:g.68679021A>G, IGHMBP2(NM_002180.2):c.661A>G)

Individual ID 00210446
Chromosome 11
Allele Unknown
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.68679021A>G
DNA change (hg38) g.68911553A>G
Published as -
ISCN -
DB-ID IGHMBP2_000037
Variant remarks not in 60 controls
Reference PubMed: Grohmann, 2003
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 Jorge Oliveira
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 +/. 5 c.661A>G r.(?) p.(Thr221Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211522 DNA SEQ - - IGHMBP2 2 Jorge Oliveira