Variant #0000683689 (NC_000011.9:g.?, IGHMBP2(NM_002180.2):c.?)

Individual ID 00308037
Chromosome 11
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as 61C>T (Arg21Cys)
ISCN -
DB-ID IGHMBP2_000000 See all 5 reported entries
Variant remarks -
Reference PubMed: Mahler 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGHMBP2 NM_002180.2 +/. - c.? r.(?) p.(Arg?Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309181 DNA SEQ;SEQ-NG - - IGHMBP2 2 Johan den Dunnen