chr8:143957715:A>G Detail (hg19) (CYP11B1, LOC106799833)

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

Genome

Assembly	Position
hg19	chr8:143,957,715-143,957,715
hg38	chr8:142,876,299-142,876,299 View the variant detail on this assembly version.

HGVS

CYP11B1

Type	Transcript	Protein
RefSeq	NM_000497.3:c.896T>C	NP_000488.3:p.Leu299Pro
	NM_001026213.1:c.896T>C	NP_001021384.1:p.Leu299Pro
Ensemble	ENST00000292427.10:c.896T>C	ENST00000292427.10:p.Leu299Pro
	ENST00000377675.3:c.1109T>C	ENST00000377675.3:p.Leu370Pro
	ENST00000517471.5:c.896T>C	ENST00000517471.5:p.Leu299Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

CYP11B1

Type	Database	ID	Link
Gene	MIM	610613	OMIM
	HGNC	2591	HGNC
	Ensembl	ENSG00000160882	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 Likely pathogenic	2023-08-06	criteria provided, multiple submitters, no conflicts	Deficiency of steroid 11-beta-monooxygenase	germline unknown	Detail
Pathogenic	2023-07-03	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.488	Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency	A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization i...	BeFree	18663314	Detail
<0.001	Virilism	A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization i...	BeFree	18663314	Detail
0.008	11-Beta-hydroxylase deficiency	A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization i...	BeFree	18663314	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro) AND Deficiency of steroid 11-beta-monooxygenase	ClinVar	Detail
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro) AND not provided	ClinVar	Detail
A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals ...	DisGeNET	Detail
A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals ...	DisGeNET	Detail
A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals ...	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: rs387907573 dbSNP
Genome: hg19
Position: chr8:143,957,715-143,957,715
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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