Variant #0000019683 (NC_000011.9:g.71155082G>A, DHCR7(NM_001360.2):c.278C>T)

Individual ID 00002008
Chromosome 11
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.71155082G>A
DNA change (hg38) g.71444036G>A
Published as -
ISCN -
DB-ID DHCR7_000012 See all 96 reported entries
Variant remarks -
Reference PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008
ClinVar ID -
dbSNP ID rs80338853
Origin Unknown
Segregation -
Frequency SP1/528,GR1/400
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Division of Human Genetics, Innsbruck
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     

Haplotype     
DHCR7 NM_001360.2 +/+ 4 c.278C>T r.(?) p.(Thr93Met) J



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001686 DNA SEQ - - DHCR7 2 Division of Human Genetics, Innsbruck