Variant #0000116782 (NC_000011.9:g.111958666G>A, SDHD(NM_003002.2):c.138G>A)

Individual ID 00072488
Chromosome 11
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Does not affect function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.111958666G>A
DNA change (hg38) g.112087942G>A
Published as p.Val46Val
ISCN -
DB-ID SDHD_000065
Variant remarks -
Reference DBSubm003
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jovana Vignjevic
Database submission license No license selected
Created by Jovana Vignjevic
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHD NM_003002.2 ?/- 2 c.138G>A r.(?) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072645 DNA SEQ - - SDHD 1 Jovana Vignjevic