chr2:38074431:C>T Detail (hg38) (CYP1B1)

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

Genome

Assembly	Position
hg19	chr2:38,301,574-38,301,574 View the variant detail on this assembly version.
hg38	chr2:38,074,431-38,074,431

HGVS

CYP1B1

Type	Transcript	Protein
RefSeq	NM_000104.3:c.958G>A	NP_000095.2:p.Val320Ile
Ensemble	ENST00000490576.2:c.958G>A	ENST00000490576.2:p.Val320Ile
	ENST00000494864.1:c.-70-3121G>A
	ENST00000610745.5:c.958G>A	ENST00000610745.5:p.Val320Ile
	ENST00000614273.1:c.958G>A	ENST00000614273.1:p.Val320Ile
	ENST00000714520.1:c.958G>A	ENST00000714520.1:p.Val320Ile

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
Review star	[No Data.]
Show details

Links

CYP1B1

Type	Database	ID	Link
Gene	MIM	601771	OMIM
	HGNC	2597	HGNC
	Ensembl	ENSG00000138061	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv307370981	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
0.320	GLAUCOMA 3, PRIMARY CONGENITAL, A	Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with prima...	UNIPROT	11527932	Detail

Annotation

Annotations

Descrption	Source	Links
Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glauco...	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: -
Genome: hg38
Position: chr2:38,074,431-38,074,431
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8098
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): 111962
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.93160179346564E-6

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