Variant #0000116788 (NC_000011.9:g.111958697_111958706del, SDHD(NM_003002.2):c.169_169+9del)

Individual ID 00072493
Chromosome 11
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Probably affects function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.111958697_111958706del
DNA change (hg38) g.112087973_112087982del
Published as delTGTATGTTCT affects exon 2 & IVS2. Aberrant splicing?
ISCN -
DB-ID SDHD_000074 See all 4 reported entries
Variant remarks deletion of last nucleotide of exon 2 and splice donor site of intron 2 - splicing defect?
Reference DBSubm001
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 Janneke Weiss
Database submission license No license selected
Created by Janneke Weiss
Options




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     
0000072650 DNA SEQ - - SDHD 1 Janneke Weiss