Variant #0000020140 (NC_000011.9:g.71148915G>C, NM_001360.2:c.906C>G (DHCR7))

Individual ID 00002009
Chromosome 11
Allele Maternal (inferred)
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.71148915G>C
DNA change (hg38) g.71437869G>C
Published as -
ISCN -
DB-ID DHCR7_000053 See all 14 reported entries
Variant remarks -
Reference PubMed: Yu et al. 2000
ClinVar ID -
dbSNP ID rs80338858
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-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
Date created 2010-03-29 17:46:43 +02:00 (CEST)
Date last edited 2012-04-13 14:37:37 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
DHCR7 NM_001360.2 +/+ 8 c.906C>G r.(?) p.(Phe302Leu) F



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001687 DNA SEQ - - DHCR7 2 Division of Human Genetics, Innsbruck


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