Variant #0000020037 (NC_000011.9:g.71153310T>C, DHCR7(NM_001360.2):c.411A>G)

Individual ID 00002360
Chromosome 11
Allele Unknown
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.71153310T>C
DNA change (hg38) g.71442264T>C
Published as -
ISCN -
DB-ID DHCR7_000234
Variant remarks substitution may adversely effect splicing
Reference PubMed: Waye et al. 2007
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 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 ?/? 5 c.411A>G r.spl? p.(Ala137Ala) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002038 DNA SEQ - - DHCR7 2 Division of Human Genetics, Innsbruck