Variant #0000003013 (NC_000016.10:g.5086delC, NM_001770.6:c.24delC (CD19))

Individual ID 00000751
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5086delC
Published as -
Reference Noh LM et al.(2012): https://www.researchgate.net/publication/236946449_An_CD19_Deficient_B_Cell_Abnormality_and_Selective_isotype_IgM_deficiency_in_A_Malay_Child_A_Case_Report
DB-ID CD19_000002
dbSNP ID rs1597935352
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-07-01 10:00:48 +08:00 (CST)
Date last edited 2021-09-09 15:21:51 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
CD19 NM_001770.6 +/. 1 c.24delC - r.(?) p.(Phe9Serfs*16) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000845 ? ? CD19 1 Nur Aisyah Athirah