chr11:71441401:C>G Detail (hg38) (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	chr11:71,152,447-71,152,447 View the variant detail on this assembly version.
hg38	chr11:71,441,401-71,441,401

HGVS

DHCR7

Type	Transcript	Protein
RefSeq	NM_001163817.1:c.452G>C	NP_001157289.1:p.Trp151Ser
	NM_001360.2:c.452G>C	NP_001351.2:p.Trp151Ser
Ensemble	ENST00000355527.8:c.452G>C	ENST00000355527.8:p.Trp151Ser
	ENST00000407721.6:c.452G>C	ENST00000407721.6:p.Trp151Ser
	ENST00000526780.6:c.452G>C	ENST00000526780.6:p.Trp151Ser
	ENST00000527316.6:c.278G>C	ENST00000527316.6:p.Trp93Ser
	ENST00000682708.1:c.452G>C	ENST00000682708.1:p.Trp151Ser
	ENST00000682880.1:c.452G>C	ENST00000682880.1:p.Trp151Ser
	ENST00000683287.1:c.488G>C	ENST00000683287.1:p.Trp163Ser
	ENST00000683714.1:c.452G>C	ENST00000683714.1:p.Trp151Ser
	ENST00000685320.1:c.-134G>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.610	Smith-Lemli-Opitz syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	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: rs11555217 dbSNP
Genome: hg38
Position: chr11:71,441,401-71,441,401
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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