Variant #0000009547 (NC_000001.11:g.17044792_17044796del, SDHB(NM_003000.3):c.166_170del)

Individual ID 00002271
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.17044792_17044796del
Reference -
DB-ID SDHB_000007
dbSNP ID rs786202100
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Private Practice
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
SDHB NM_003000.3 +/+ 2 c.166_170del p.(Pro56Tyrfs*5) Hetero N/A r.(166_170del) -



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002564 DNA SEQ-NG Genda Panel (84 genes) 03-03-20 Multigenetic panel - 3 Lina Nuñez-Private Practice