Variant #0000004343 (NC_000011.9:g.68671477T>C, IGHMBP2(NM_002180.2):c.57T>C)

Individual ID 00004343
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68671477T>C
Reference Lin X1, Zhang QJ1, He J1, Lin MT1, Murong SX1, Wang N2, Chen WJ3.(2013)
DB-ID IGHMBP2_000023
Frequency -
Average frequency (gnomAD v.2.1.1) 0.77023 View details
Owner Y Yang
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 ./. 1 c.57T>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004343 ? ? IGHMBP2 1 Y Yang