Variant #0000009311 (NC_000001.11:g.17022624G>A, SDHB(NM_003000.2):c.749C>T)

Individual ID 00001966
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.17022624G>A
Reference -
DB-ID SDHB_000006
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan-Hospital Italiano
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_003000.2 ?/? 7 c.749C>T p.(Thr250Ile) Hetero no r.(749c>u) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002253 DNA SEQ-NG Genia/Invitae Panel Invitae (84 genes) 03-apr-2022 Multigenetic panel - 2 Pablo Kalfayan-Hospital Italiano