Variant #0000443116 (NC_000011.9:g.68673613C>T, IGHMBP2(NM_002180.2):c.163C>T)

Individual ID 00210469
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.68673613C>T
DNA change (hg38) g.68906145C>T
Published as -
ISCN -
DB-ID IGHMBP2_000077
Variant remarks -
Reference PubMed: Guenther, 2007
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 +/. 2 c.163C>T r.(?) p.(Gln55*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211545 DNA SEQ - - IGHMBP2 2 Jorge Oliveira