Variant #0000443067 (NC_000011.9:g.68673577C>T, IGHMBP2(NM_002180.2):c.127C>T)

Individual ID 00210452
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.68673577C>T
DNA change (hg38) g.68906109C>T
Published as Arg 43 Stop, base 127 cga to tga
ISCN -
DB-ID IGHMBP2_000042 See all 3 reported entries
Variant remarks -
Reference PubMed: Pitt, 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Jorge Oliveira
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 +/. 2 c.127C>T r.(?) p.(Arg43*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211528 DNA SEQ - - IGHMBP2 2 Jorge Oliveira