Variant #0000036090 (NC_000011.9:g.71152363_71157203del, DHCR7(NM_001360.2):c.-6-1198_537del)

Individual ID 00016362
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.71152363_71157203del
DNA change (hg38) g.71441317_71446157del
Published as NG_012655.2:g.7276_12116del
ISCN -
DB-ID DHCR7_000245
Variant remarks deletion of exon 3, 4, 5 and parts of exon 6
Reference -
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 Division of Human Genetics, Innsbruck
Database submission license No license selected
Created by Division of Human Genetics, Innsbruck
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
DHCR7 NM_001360.2 +?/+? 2i_6 c.-6-1198_537del r.(?) p.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016300 DNA SEQ blood - DHCR7 2 Division of Human Genetics, Innsbruck