chr2:38298404:C>A Detail (hg19) (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	chr2:38,298,404-38,298,404
hg38	chr2:38,071,261-38,071,261 View the variant detail on this assembly version.

HGVS

CYP1B1

Type	Transcript	Protein
RefSeq	NM_000104.3:c.1093G>T	NP_000095.2:p.Gly365Trp
Ensemble	ENST00000490576.2:c.1093G>T	ENST00000490576.2:p.Gly365Trp
	ENST00000494864.1:c.-21G>T
	ENST00000610745.5:c.1093G>T	ENST00000610745.5:p.Gly365Trp
	ENST00000614273.1:c.1093G>T	ENST00000614273.1:p.Gly365Trp
	ENST00000714520.1:c.1093G>T	ENST00000714520.1:p.Gly365Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1998-03-01	no assertion criteria provided	Glaucoma 3A	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.135	hydrophthalmos	NA	CLINVAR		Detail
0.135	hydrophthalmos	Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp...	BeFree	12807732	Detail
0.320	GLAUCOMA 3, PRIMARY CONGENITAL, A	We recently reported three truncating mutations of the cytochrome P4501B1 gene (...	UNIPROT	9497261	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000104.4(CYP1B1):c.1093G>T (p.Gly365Trp) AND Glaucoma 3A	ClinVar	Detail
NA	DisGeNET	Detail
Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp, Asp374Asn, Pro437L...	DisGeNET	Detail
We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five fami...	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: rs55771538 dbSNP
Genome: hg19
Position: chr2:38,298,404-38,298,404
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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