Variant #0000860291 (NC_000006.11:g.31918104G>A, NM_006929.4:c.-8866G>A (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.31918104G>A
DNA change (hg38) -
Published as CFB(NM_001710.5):c.1548G>A (p.V516=)
ISCN -
DB-ID C2_000056
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) 0.00019 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2022-05-09 15:51:19 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C2 NM_000063.4 -?/. - c.*4970G>A r.(=) p.(=)
CFB NM_001710.5 -?/. - c.1548G>A r.(?) p.(Val516=)
NELFE NM_002904.5 -?/. - c.*1974C>T r.(=) p.(=)
SKIV2L NM_006929.4 -?/. - c.-8866G>A r.(?) p.(=)
ZBTB12 NM_181842.2 -?/. - c.-48511C>T r.(?) p.(=)


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