Variant #0000004328 (NC_000011.9:g.68704303delG, IGHMBP2(NM_002180.2):c.2355delG)

Individual ID 00004328
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68704303delG
Reference Wong VC1, Chung BH, Li S, Goh W, Lee SL.(2006)
DB-ID IGHMBP2_000028
Frequency ADMIN
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
IGHMBP2 NM_002180.2 ./. 13 c.2355delG r.(?) p.(Ala786Profs*45) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004328 ? ? IGHMBP2 1 Y Yang