Variant Details for DHCR7

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Basic Information Top

Gene Symbol:	DHCR7 ( SLOS )
Gene Full Name:	7-dehydrocholesterol reductase
Band:	11q13.4
Quick Links	Entrez ID:1717; OMIM: 602858; Uniprot ID:DHCR7_HUMAN; ENSEMBL ID: ENSG00000172893; HGNC ID: 2860
Relate to Another Database:	SFARIGene; denovo-db

Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19

Genetic Category	CNVs/SVs	de novo Mutations	Mosaics SNVs	NGS Other Mutations	Low-Scale Gene Mutations	Linkage Regions	Total
Number	2	0	0	1	0	0	3

CNVs/SVs Top

CNV ID	Chr	Band	Start	End	Size	Gain/Loss	UCSC Browser	Reference
AutCNV0000693	11	11q13.4	71022352	75222352	4200000	gain	external link	Berkel, 2010
AutCNV0003330	11	11q13.3-13.4	70842919	71339667	496748	gain	external link	Gai, 2011

NGS de novo Mutations Top

iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.

Chr	Pos	Ref	Alt	Coding	AA	Validated Method	iFish Prediction	iFish Probability	Reference
No related data!

NGS Mosaic Mutations Top

Chr	Position	Ref	Alt	Genotype	Validated Method	Reference
No related data!

NGS Other Mutations Top

Chr	Pos	Ref	Alt	Coding	AA	Validated	iFish Prediction	iFish Probability	Reference
11	71146886	C	G						Kalsner L, 2018

Low-Scale Gene Mutations Top

Chr	Pos	Ref	Alt	Coding	AA	Validated	iFish Prediction	iFish Probability	Reference
No related data!

Linkage Regions Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P Value	Reference
No related data!

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Variant Details for DHCR7

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics