Variant #0000239853 (NC_000011.9:g.111958697_111958706del, SDHD(NM_003002.2):c.169_169+9del)

Individual ID 00146319
Chromosome 11
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.111958697_111958706del
DNA change (hg38) g.112087973_112087982del
Published as 169_169+9 del TGTATGTTCT
ISCN -
DB-ID SDHD_000074 See all 4 reported entries
Variant remarks -
Reference Journal: Heesterman 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Berdine Heesterman
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 +?/+? 2_2i c.169_169+9del r.spl p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000147175 DNA SEQ - - SDHD 1 Berdine Heesterman