Variant #0000005616 (NC_000011.9:g.68703742C>T, IGHMBP2(NM_002180.2):c.1794C>T)

Individual ID 00005629
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68703742C>T
Reference Shi CH et al. (2015)
DB-ID IGHMBP2_000031
Frequency -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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.1794C>T r.(?) p.(Asn598Lys) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005643 ? ? IGHMBP2 1 XY Liu