chr2:38071186:G>A 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	chr2:38,298,329-38,298,329 View the variant detail on this assembly version.
hg38	chr2:38,071,186-38,071,186

HGVS

CYP1B1

Type	Transcript	Protein
RefSeq	NM_000104.3:c.1168C>T	NP_000095.2:p.Arg390Cys
Ensemble	ENST00000490576.2:c.1168C>T	ENST00000490576.2:p.Arg390Cys
	ENST00000494864.1:c.55C>T	ENST00000494864.1:p.Arg19Cys
	ENST00000610745.5:c.1168C>T	ENST00000610745.5:p.Arg390Cys
	ENST00000614273.1:c.1168C>T	ENST00000614273.1:p.Arg390Cys
	ENST00000714520.1:c.1168C>T	ENST00000714520.1:p.Arg390Cys

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
Review star
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	tgv6523937	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2017-04-27	criteria provided, single submitter	Irido-corneo-trabecular dysgenesis	germline	Detail
Pathogenic	2017-04-27	criteria provided, single submitter	Glaucoma 3A	germline	Detail
Pathogenic	2021-06-22	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2022-04-08	criteria provided, single submitter	primary congenital glaucoma	germline	Detail
Pathogenic	2023-08-14	criteria provided, single submitter	anterior segment dysgenesis 6	unknown	Detail
Pathogenic	2023-12-20	criteria provided, single submitter	Congenital glaucoma	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	GLAUCOMA 3, PRIMARY CONGENITAL, A	Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segr...	UNIPROT	10655546	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys) AND Irido-corneo-trabecular dysgenesis	ClinVar	Detail
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys) AND Glaucoma 3A	ClinVar	Detail
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys) AND not provided	ClinVar	Detail
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys) AND Primary congenital glaucoma	ClinVar	Detail
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys) AND Anterior segment dysgenesis 6	ClinVar	Detail
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys) AND Congenital glaucoma	ClinVar	Detail
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary cong...	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: rs148542782 dbSNP
Genome: hg38
Position: chr2:38,071,186-38,071,186
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8590
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): 118234
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): 2.537341204729604E-5

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