Variant #0000443034 (NC_000011.9:g.68675795C>T, IGHMBP2(NM_002180.2):c.439C>T)

Individual ID 00210435
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.68675795C>T
DNA change (hg38) g.68908327C>T
Published as -
ISCN -
DB-ID IGHMBP2_000028 See all 3 reported entries
Variant remarks -
Reference PubMed: Grohmann, 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
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 +/. 3 c.439C>T r.(?) p.(Arg147*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211511 DNA SEQ - - IGHMBP2 2 Jorge Oliveira