Variant #0000001358 (NC_000017.11:g.4735268G>A, NM_022059.3:c.599C>T (CXCL16))

Individual ID 00000280
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.4735268G>A
Published as -
Reference Kek Heng Chua et al. (2016), dbSNP
DB-ID CXCL16_000001 See all 6 reported entries
dbSNP ID rs2277680
Frequency 7/20
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-20 15:59:13 +08:00 (CST)
Date last edited 2021-08-30 09:53:35 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
CXCL16 NM_022059.3 +/. - c.599C>T - r.(?) p.(Ala200Val) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000295 DNA PCR CXCL16 2 Nuur Athirah Binti Mohd Daud