Variant #0000169260 (NC_000003.11:g.38182252C>T, MYD88(NM_002468.4):c.688C>T)

Individual ID 00103993
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.38182252C>T
DNA change (hg38) g.38140761C>T
Published as NM_001172567.1(MYD88):c.712C>T p.(Arg238Cys)
ISCN -
DB-ID MYD88_000001
Variant remarks variant could not be associated with disease phenotype
Reference PubMed: Vogelaar 2017, Journal: Vogelaar 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Marjolijn JL Ligtenberg
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYD88 NM_002468.4 ./. - c.688C>T r.(?) p.(Arg230Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104464 DNA SEQ-NG - - - 8 Marjolijn JL Ligtenberg