Variant #0000116785 (NC_000011.9:g.111958677dup, SDHD(NM_003002.2):c.149dup)

Individual ID 00072799
Chromosome 11
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.111958677dup
DNA change (hg38) g.112087953dup
Published as p.His50fs, H50fsX68
ISCN -
DB-ID SDHD_000057 See all 3 reported entries
Variant remarks -
Reference PubMed: Lendvai
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jean-Pierre Bayley
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.149dup r.(?) p.(His50Glnfs*19) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072956 DNA SEQ - - SDHD 1 Jean-Pierre Bayley