chr11:71152446:C>T Detail (hg19) (DHCR7)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr11:71,152,446-71,152,446
hg38	chr11:71,441,400-71,441,400 View the variant detail on this assembly version.

HGVS

DHCR7

Type	Transcript	Protein
RefSeq	NM_001163817.1:c.453G>A	NP_001157289.1:p.Trp151Ter
	NM_001360.2:c.453G>A	NP_001351.2:p.Trp151Ter
Ensemble	ENST00000526780.6:c.453G>A	ENST00000526780.6:p.Trp151Ter
	ENST00000682880.1:c.453G>A	ENST00000682880.1:p.Trp151Ter
	ENST00000407721.6:c.453G>A	ENST00000407721.6:p.Trp151Ter
	ENST00000527316.6:c.279G>A	ENST00000527316.6:p.Trp93Ter
	ENST00000683287.1:c.489G>A	ENST00000683287.1:p.Trp163Ter
	ENST00000355527.8:c.453G>A	ENST00000355527.8:p.Trp151Ter
	ENST00000685320.1:c.-133G>A
	ENST00000682708.1:c.453G>A	ENST00000682708.1:p.Trp151Ter
	ENST00000683714.1:c.453G>A	ENST00000683714.1:p.Trp151Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

DHCR7

Type	Database	ID	Link
Gene	MIM	602858	OMIM
	HGNC	2860	HGNC
	Ensembl	ENSG00000172893	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2008-04-01	no assertion criteria provided	Smith-Lemli-Opitz syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.610	Smith-Lemli-Opitz syndrome	NA	CLINVAR		Detail
0.610	Smith-Lemli-Opitz syndrome	Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DH...	BeFree	11078571	Detail
0.610	Smith-Lemli-Opitz syndrome	In Polish individuals with SLOS two DHCR7 mutations, c.452G>A (p.Trp151X) and...	BeFree	16497572	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001360.3(DHCR7):c.453G>A (p.Trp151Ter) AND Smith-Lemli-Opitz syndrome	ClinVar	Detail
NA	DisGeNET	Detail
Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a letha...	DisGeNET	Detail
In Polish individuals with SLOS two DHCR7 mutations, c.452G>A (p.Trp151X) and c.976G>T (p.Val3...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs104894213 dbSNP
Genome: hg19
Position: chr11:71,152,446-71,152,446
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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