Variant #0000684783 (NC_000011.9:g.68675700C>T, IGHMBP2(NM_002180.2):c.344C>T)

Individual ID 00308736
Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.68675700C>T
DNA change (hg38) g.68908232C>T
Published as -
ISCN -
DB-ID IGHMBP2_000219 See all 4 reported entries
Variant remarks classification based on frequency in 305 unrelated individuals
Reference PubMed: Le 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency frequency 0.020
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00094 View details
Owner Global Variome, with Curator vacancy
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 -?/. - c.344C>T r.(?) p.(Thr115Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309881 DNA SEQ;SEQ-NG - 105 WGS/200 WES IGHMBP2 1 Global Variome, with Curator vacancy