Variant #0000019898 (NC_000011.9:g.71152307T>G, DHCR7(NM_001360.2):c.592A>C)

Individual ID 00002221
Chromosome 11
Allele Parent #1
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.71152307T>G
DNA change (hg38) g.71441261T>G
Published as -
ISCN -
DB-ID DHCR7_000210
Variant remarks -
Reference PubMed: Jira et al. 2001
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
DHCR7 NM_001360.2 +?/+? 6 c.592A>C r.(?) p.(Lys198Glu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001899 DNA SEQ - - DHCR7 2 Division of Human Genetics, Innsbruck