Variant #0000665787 (NC_000011.9:g.111957664C>A, SDHD(NM_003002.2):c.33C>A)

Individual ID 00301378
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.111957664C>A
DNA change (hg38) g.112086940C>A
Published as -
ISCN -
DB-ID SDHD_000027 See all 2 reported entries
Variant remarks ACMG grading: PS3,PM1,PM2,PP5; Guyant-Marechal et al. 2006. Neurology 67: 644; H├╝bbers et al. 2007. Brain 130: 381; Krause et al. 2007. Clin Neuropathol 26: 232; Niwa et al. 2012. J Biol Chem 287: 8561; Erzurumlu et al. 2013. Int J Biochem Cell Biol 45: 773
Reference -
ClinVar ID -
dbSNP ID rs104894309
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
SDHD NM_003002.2 +/. - c.33C>A r.(?) p.(Cys11*) - -



Screenings


AscendingScreening ID     

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Technique     

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Remarks     

Genes screened     

Variants found     

Owner     
0000302499 DNA SEQ-NG-S - - - 1 Andreas Laner