Variant #0000277913 (NC_000011.9:g.68673588T>A, IGHMBP2(NM_002180.2):c.138T>A)

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.68673588T>A
DNA change (hg38) g.68906120T>A
Published as IGHMBP2(NM_002180.2):c.138T>A (p.C46*)
ISCN -
DB-ID IGHMBP2_000026 See all 5 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGHMBP2 NM_002180.2 +/. - c.138T>A r.(?) p.(Cys46Ter)
MRPL21 NM_181514.1 +/. - c.-2310A>T r.(?) p.(=)