chr11:71148955:G>A 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	chr11:71,148,955-71,148,955
hg38	chr11:71,437,909-71,437,909 View the variant detail on this assembly version.

HGVS

DHCR7

Type	Transcript	Protein
RefSeq	NM_001163817.1:c.866C>T	NP_001157289.1:p.Thr289Ile
	NM_001360.2:c.866C>T	NP_001351.2:p.Thr289Ile
Ensemble	ENST00000685320.1:c.281C>T	ENST00000685320.1:p.Thr94Ile
	ENST00000683714.1:c.866C>T	ENST00000683714.1:p.Thr289Ile
	ENST00000682708.1:c.917C>T	ENST00000682708.1:p.Thr306Ile
	ENST00000682880.1:c.866C>T	ENST00000682880.1:p.Thr289Ile
	ENST00000526780.6:c.866C>T	ENST00000526780.6:p.Thr289Ile
	ENST00000683287.1:c.902C>T	ENST00000683287.1:p.Thr301Ile
	ENST00000355527.8:c.866C>T	ENST00000355527.8:p.Thr289Ile
	ENST00000527316.6:c.692C>T	ENST00000527316.6:p.Thr231Ile
	ENST00000407721.6:c.866C>T	ENST00000407721.6:p.Thr289Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-04	criteria provided, multiple submitters, no conflicts	Smith-Lemli-Opitz syndrome	germline unknown	Detail
Pathogenic Likely pathogenic	2022-02-22	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2019-05-22	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

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
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) AND Smith-Lemli-Opitz syndrome	ClinVar	Detail
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) AND not provided	ClinVar	Detail
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) AND Inborn genetic diseases	ClinVar	Detail
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: rs121909765 dbSNP
Genome: hg19
Position: chr11:71,148,955-71,148,955
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8574
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120924
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6539313949257384E-5

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