Variant #0000684813 (NC_000020.10:g.18491553C>A, SEC23B(NM_032985.4):c.74C>A)

Individual ID 00308766
Chromosome 20
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.18491553C>A
DNA change (hg38) g.18510909C>A
Published as -
ISCN -
DB-ID SEC23B_000015 See all 4 reported entries
Variant remarks classification based on frequency in 305 unrelated individuals
Reference PubMed: Le 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency frequency 0.015
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00052 View details
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SEC23B NM_032985.4 -?/. - c.74C>A r.(?) p.(Pro25His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309911 DNA SEQ;SEQ-NG - 105 WGS/200 WES SEC23B 1 Global Variome, with Curator vacancy