Variant #0000733943 (NC_000003.11:g.38182249T>A, MYD88(NM_002468.4):c.685T>A)

Individual ID 00334289
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.38182249T>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID MYD88_000005
Variant remarks -
Reference Liu submitted, 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner Liu Wenbing
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYD88 NM_002468.4 ?/. - c.685T>A r.(?) p.(Cys229Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000335515 DNA SEQ-NG PBMC WES - 4 Liu Wenbing