Variant #0000277920 (NC_000011.9:g.68673613C>T, IGHMBP2(NM_002180.2):c.163C>T)

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.68673613C>T
DNA change (hg38) g.68906145C>T
Published as IGHMBP2(NM_002180.3):c.163C>T (p.Q55*)
ISCN -
DB-ID IGHMBP2_000095
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
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.163C>T r.(?) p.(Gln55Ter)
MRPL21 NM_181514.1 +/. - c.-2335G>A r.(?) p.(=)