Variant #0000116779 (NC_000011.9:g.111958648_111958655del, SDHD(NM_003002.2):c.120_127del)

Individual ID 00072545
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Affects function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.111958648_111958655del
DNA change (hg38) g.112087924_112087931del
Published as -
ISCN -
DB-ID SDHD_000075
Variant remarks -
Reference PubMed: Lima, PubMed: Sevilla
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 Ginesa Garcia-Rostan
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Jean-Pierre Bayley
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHD NM_003002.2 ?/+ 2 c.120_127del r.(?) p.(Ile40Metfs*26) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072702 DNA SEQ;SSCA - - SDHD 1 Ginesa Garcia-Rostan