Variant #0000020478 (NC_000011.9:g.71146819C>G, DHCR7(NM_001360.2):c.1030G>C)

Individual ID 00002364
Chromosome 11
Allele Unknown
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.71146819C>G
DNA change (hg38) g.71435773C>G
Published as -
ISCN -
DB-ID DHCR7_000216 See all 2 reported entries
Variant remarks -
Reference PubMed: Waye 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
DHCR7 NM_001360.2 +?/+? 9 c.1030G>C r.(?) p.(Gly344Arg) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002042 DNA SEQ - - DHCR7 2 Division of Human Genetics, Innsbruck