Variant #0000128245 (NC_000001.10:g.(17359641_17371255)_(17380665_?)del, SDHB(NM_003000.2):c.(?_-151)_(200+1_201-1)del)

Individual ID 00079446
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(17359641_17371255)_(17380665_?)del
DNA change (hg38) -
Published as c.[-?_200+?del];[=]
ISCN -
DB-ID SDHB_000202 See all 3 reported entries
Variant remarks -
Reference PubMed: Rattenberry
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 Jean-Pierre Bayley
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHB NM_003000.2 +/. 1_2i c.(?_-151)_(200+1_201-1)del r.? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079519 DNA SEQ-NG - - SDHB 1 Jean-Pierre Bayley