Variant #0000004341 (NC_000011.9:g.68696734G>A, IGHMBP2(NM_002180.2):c.1144G>A)

Individual ID 00004341
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68696734G>A
Reference Pierson TM1, Tart G, Adams D, Toro C, Golas G, Tifft C, Gahl W.(2011)
DB-ID IGHMBP2_000021
Frequency -
Average frequency (gnomAD v.2.1.1) 1.0E-5 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 ./. 8 c.1144G>A r.(?) p.(Glu382Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004341 ? ? IGHMBP2 1 Y Yang