Variant #0000528309 (NC_000006.11:g.31918154A>G, NM_006929.4:c.-8816A>G (SKIV2L))

Chromosome 6
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.31918154A>G
DNA change (hg38) g.31950377A>G
Published as CFB(NM_001710.5):c.1598A>G (p.K533R), CFB(NM_001710.6):c.1598A>G (p.K533R)
ISCN -
DB-ID C2_000024 See all 4 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) 0.00917 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C2 NM_000063.4 -?/. - c.*5020A>G r.(=) p.(=)
CFB NM_001710.5 -?/. - c.1598A>G r.(?) p.(Lys533Arg)
NELFE NM_002904.5 -?/. - c.*1924T>C r.(=) p.(=)
SKIV2L NM_006929.4 -?/. - c.-8816A>G r.(?) p.(=)
ZBTB12 NM_181842.2 -?/. - c.-48561T>C r.(?) p.(=)


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