Variant #0000116777 (NC_000011.9:g.111958646A>G, SDHD(NM_003002.2):c.118A>G)

Individual ID 00072802
Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.111958646A>G
DNA change (hg38) g.112087922A>G
Published as -
ISCN -
DB-ID SDHD_000107
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency 0/274
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Ginesa Garcia-Rostan
Database submission license No license selected
Created by Ginesa Garcia-Rostan
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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 +?/-? 2 c.118A>G r.(?) p.(Ile40Val) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072959 DNA SSCA - - SDHD 1 Ginesa Garcia-Rostan