Variant #0000116805 (NC_000011.9:g.111959625C>T, SDHD(NM_003002.2):c.204C>T)

Individual ID 00072501
Chromosome 11
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Does not affect function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.111959625C>T
DNA change (hg38) g.112088901C>T
Published as p.Ser68Ser, g.7802 C->T (S68S), AGC - >AGT,
ISCN -
DB-ID SDHD_000034 See all 4 reported entries
Variant remarks -
Reference PubMed: Taschner, PubMed: Cascon, PubMed: Cascon, PubMed: Hui, PubMed: Masuoka, PubMed: Dannenberg, PubMed: Aguiar, PubMed: Bauters, PubMed: Lima
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2.8 - 4.4%
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.03329 View details
Owner Jean-Pierre Bayley
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Jean-Pierre Bayley
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHD NM_003002.2 ?/- 3 c.204C>T r.(?) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072658 DNA SEQ;SSCA - - SDHD 1 Jean-Pierre Bayley