Variant #0000442998 (NC_000011.9:g.68671285_68671286insCGCCATCTTCCCGC, IGHMBP2(NM_002180.2):c.-136_-135insCGCCATCTTCCCGC)

Individual ID 00210420
Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.68671285_68671286insCGCCATCTTCCCGC
DNA change (hg38) g.68903817_68903818insCGCCATCTTCCCGC
Published as -
ISCN -
DB-ID IGHMBP2_000006 See all 2 reported entries
Variant remarks -
Reference PubMed: Grohmann, 2001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
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 -/. 1 c.-136_-135insCGCCATCTTCCCGC r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211496 DNA SEQ - - IGHMBP2 3 Jorge Oliveira