Variant #0000613795 (NC_000011.9:g.9878171G>C, NM_030962.3:c.2197C>G (SBF2))

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.9878171G>C
DNA change (hg38) g.9856624G>C
Published as SBF2(NM_030962.3):c.2197C>G (p.Q733E), SBF2(NM_030962.4):c.2197C>G (p.Q733E)
ISCN -
DB-ID SBF2_000069 See all 2 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) 0.00019 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2025-05-05 21:14:00 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SBF2 NM_030962.3 ?/. - c.2197C>G r.(?) p.(Gln733Glu)


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