Variant #0000004349 (NC_000011.9:g.68701332C>A, IGHMBP2(NM_002180.2):c.1488C>A)

Individual ID 00004349
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68701332C>A
Reference Litvinenko I1, Kirov AV2, Georgieva R3, Todorov T4, Malinova Z3, Mitev V5, Todorova A6.(2014)
DB-ID IGHMBP2_000016 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00016 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
IGHMBP2 NM_002180.2 ./. 10 c.1488C>A r.(?) p.(Cys496*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004349 ? ? IGHMBP2 1 Y Yang