Variant #0000002269 (NC_000006.12:g.31968877C>T, NM_006929.4:c.3187C>T (SKIV2L))

Individual ID 00000488
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.31968877C>T
Published as -
Reference Way Seah Lee et al.(2016)
DB-ID SKIV2L_000002
dbSNP ID rs138923214
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 2021-03-08 15:23:37 +08:00 (CST)
Date last edited 2021-08-01 13:16:28 +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     
SKIV2L NM_006929.4 +/. 26 c.3187C>T - r.(?) p.(Arg1063*) -
SKIV2L XR_001743586.2 ?/. - n.3286C>T - r.(?) - -
SKIV2L XR_926301.3 ?/. - n.3203C>T - r.(?) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000534 DNA MCA SKIV2L 2 Nur Aisyah Athirah