Variant #0000660364 (NC_000011.9:g.111957665G>A, SDHD(NM_003002.2):c.34G>A)

Individual ID 00296609
Chromosome 11
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.111957665G>A
DNA change (hg38) g.112086941G>A
Published as -
ISCN -
DB-ID SDHD_000011 See all 7 reported entries
Variant remarks -
Reference PubMed: Taylor 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00756 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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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 ?/. - c.34G>A r.(?) p.(Gly12Ser) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297719 DNA SEQ;SEQ-NG - WES - 8 Johan den Dunnen