Variant #0000116413 (NC_000001.10:g.17380520C>T, SDHB(NM_003000.2):c.-6G>A)

Individual ID 00072800
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.17380520C>T
DNA change (hg38) g.17054025C>T
Published as 5' UTR
ISCN -
DB-ID SDHB_000149
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner Kazumasa Isobe
Database submission license No license selected
Created by Kazumasa Isobe
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHB NM_003000.2 ?/? 1 c.-6G>A r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072957 DNA SEQ - - SDHB 1 Kazumasa Isobe