Variant #0000340672 (NC_000006.11:g.31914935A>G, NM_006929.4:c.-12035A>G (SKIV2L))

Chromosome 6
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.31914935A>G
DNA change (hg38) g.31947158A>G
Published as -
ISCN -
DB-ID CFB_000017 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.82429 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-06-18 17:02:22 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C2 NM_000063.4 -/. - c.*1801A>G r.(=) p.(=)
CFB NM_001710.5 -/. - c.450A>G r.(?) p.(Arg150=)
NELFE NM_002904.5 -/. - c.*5143T>C r.(=) p.(=)
SKIV2L NM_006929.4 -/. - c.-12035A>G r.(?) p.(=)
ZBTB12 NM_181842.2 -/. - c.-45342T>C r.(?) p.(=)


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