Variant #0000727614 (NC_000020.10:g.18505229G>A, SEC23B(NM_032985.4):c.519G>A)

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.18505229G>A
DNA change (hg38) -
Published as SEC23B(NM_032985.5):c.519G>A (p.V173=)
ISCN -
DB-ID SEC23B_000023
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) 0.00048 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SEC23B NM_032985.4 -?/. - c.519G>A r.(?) p.(Val173=)