Variant #0000116750 (NC_000011.9:g.111957633_111957634inv, SDHD(NM_003002.2):c.2_3inv)

Individual ID 00072810
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.111957633_111957634inv
DNA change (hg38) g.112086909_112086910inv
Published as M1S
ISCN -
DB-ID SDHD_000109
Variant remarks -
Reference -
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 Yang Zha
Database submission license No license selected
Created by Yang Zha
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHD NM_003002.2 +/+ 1 c.2_3inv r.(?) p.(Met1?) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072967 DNA SEQ - - SDHD 1 Yang Zha