Variant #0000019681 (NC_000011.9:g.71155211G>T, DHCR7(NM_001360.2):c.149C>A)

Individual ID 00002006
Chromosome 11
Allele Paternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.71155211G>T
DNA change (hg38) g.71444165G>T
Published as -
ISCN -
DB-ID DHCR7_000091
Variant remarks -
Reference PubMed: Witsch-Baumgartner et al. 2005
ClinVar ID -
dbSNP ID -
Origin Unknown
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
DHCR7 NM_001360.2 ?/? 4 c.149C>A r.(?) p.(Ala50Asp) B



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001684 DNA SEQ - - DHCR7 2 Division of Human Genetics, Innsbruck