chr11:71150031: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	chr11:71,150,031-71,150,031
hg38	chr11:71,438,985-71,438,985 View the variant detail on this assembly version.

HGVS

DHCR7

Type	Transcript	Protein
RefSeq	NM_001163817.1:c.725G>A	NP_001157289.1:p.Arg242His
	NM_001360.2:c.725G>A	NP_001351.2:p.Arg242His
Ensemble	ENST00000682880.1:c.725G>A	ENST00000682880.1:p.Arg242His
	ENST00000527316.6:c.551G>A	ENST00000527316.6:p.Arg184His
	ENST00000526780.6:c.725G>A	ENST00000526780.6:p.Arg242His
	ENST00000407721.6:c.725G>A	ENST00000407721.6:p.Arg242His
	ENST00000355527.8:c.725G>A	ENST00000355527.8:p.Arg242His
	ENST00000683287.1:c.761G>A	ENST00000683287.1:p.Arg254His
	ENST00000685320.1:c.140G>A	ENST00000685320.1:p.Arg47His
	ENST00000683714.1:c.725G>A	ENST00000683714.1:p.Arg242His
	ENST00000682708.1:c.776G>A	ENST00000682708.1:p.Arg259His

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	COSM2044504	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2023-12-25	criteria provided, multiple submitters, no conflicts	Smith-Lemli-Opitz syndrome	germline unknown	Detail
Pathogenic	2023-04-04	criteria provided, single submitter	not provided	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.725G>A (p.Arg242His) AND Smith-Lemli-Opitz syndrome	ClinVar	Detail
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) AND not provided	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: rs80338857 dbSNP
Genome: hg19
Position: chr11:71,150,031-71,150,031
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8646
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1566042100393245E-4
Chromosome Counts in All Race (ExAC): 121028
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.478765244406253E-5

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