Variant #0000004346 (NC_000011.9:g.68704028C>T, IGHMBP2(NM_002180.2):c.2080C>T)

Individual ID 00004346
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68704028C>T
Reference Lin X1, Zhang QJ1, He J1, Lin MT1, Murong SX1, Wang N2, Chen WJ3.(2013)
DB-ID IGHMBP2_000026
Frequency -
Average frequency (gnomAD v.2.1.1) 0.18789 View details
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.2080C>T r.(?) p.(Arg694Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004346 ? ? IGHMBP2 1 Y Yang