Variant #0000063964 (NC_000011.9:g.9874505T>G, NC_000011.9(NM_030962.3):c.2537-209A>C (SBF2))

Individual ID 00036769
Chromosome 11
Allele Parent #1
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.9874505T>G
DNA change (hg38) g.9852958T>G
Published as -
ISCN -
DB-ID SBF2_000013
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs7122293
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-04-02 13:01:39 +02:00 (CEST)
Date last edited 2018-01-28 12:04:55 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SBF2 NM_030962.3 -/. - c.2537-209A>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036839 DNA SEQ - - SBF2 1 Andreas Laner


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