chr2:38075207:C>T Detail (hg38) (CYP1B1)

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

Information

Genome

Assembly	Position
hg19	chr2:38,302,350-38,302,350 View the variant detail on this assembly version.
hg38	chr2:38,075,207-38,075,207

HGVS

CYP1B1

Type	Transcript	Protein
RefSeq	NM_000104.3:c.182G>A	NP_000095.2:p.Gly61Glu
Ensemble	ENST00000490576.2:c.182G>A	ENST00000490576.2:p.Gly61Glu
	ENST00000494864.1:c.-70-3897G>A
	ENST00000610745.5:c.182G>A	ENST00000610745.5:p.Gly61Glu
	ENST00000614273.1:c.182G>A	ENST00000614273.1:p.Gly61Glu
	ENST00000714520.1:c.182G>A	ENST00000714520.1:p.Gly61Glu

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-03-17	criteria provided, multiple submitters, no conflicts	Glaucoma 3A	germline unknown	Detail
Pathogenic	2023-02-28	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-03-24	criteria provided, single submitter	anterior segment dysgenesis 6,Glaucoma 3A,Glaucoma 3, primary infantile, B	unknown	Detail
Pathogenic	2022-03-24	criteria provided, single submitter	anterior segment dysgenesis 6,Glaucoma 3A,Glaucoma 3, primary infantile, B	unknown	Detail
Pathogenic	2022-03-24	criteria provided, single submitter	anterior segment dysgenesis 6,Glaucoma 3A,Glaucoma 3, primary infantile, B	unknown	Detail
Pathogenic	2024-01-31	criteria provided, single submitter	Congenital glaucoma	germline	Detail
Pathogenic	2018-12-28	criteria provided, single submitter	anterior segment dysgenesis 6	germline unknown	Detail
Uncertain significance		no assertion criteria provided	anterior segment dysgenesis 6,Glaucoma 3A	germline	Detail
Uncertain significance		no assertion criteria provided	anterior segment dysgenesis 6,Glaucoma 3A	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
0.135	hydrophthalmos	NA	CLINVAR		Detail
0.135	hydrophthalmos	Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp...	BeFree	12807732	Detail
0.366	Glaucoma, Primary Open Angle	Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segr...	UNIPROT	10655546	Detail
0.002	Glaucoma of childhood	The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC muta...	BeFree	21596299	Detail
0.135	hydrophthalmos	On the Arabian Peninsula p.G61E mutations are the major cause of newborn glaucom...	BeFree	21306220	Detail
0.005	hydrophthalmos	The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC muta...	BeFree	21596299	Detail
0.001	Glaucoma of childhood	Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.	BeFree	21596299	Detail
0.135	hydrophthalmos	Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.	BeFree	21596299	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) AND Glaucoma 3A	ClinVar	Detail
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) AND not provided	ClinVar	Detail
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) AND multiple conditions	ClinVar	Detail
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) AND multiple conditions	ClinVar	Detail
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) AND multiple conditions	ClinVar	Detail
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) AND Congenital glaucoma	ClinVar	Detail
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) AND Anterior segment dysgenesis 6	ClinVar	Detail
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) AND multiple conditions	ClinVar	Detail
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) AND multiple conditions	ClinVar	Detail
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary cong...	DisGeNET	Detail
NA	DisGeNET	Detail
Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp, Asp374Asn, Pro437L...	DisGeNET	Detail
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary cong...	DisGeNET	Detail
The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detecte...	DisGeNET	Detail
On the Arabian Peninsula p.G61E mutations are the major cause of newborn glaucoma but novel CYP1B1 m...	DisGeNET	Detail
The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detecte...	DisGeNET	Detail
Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.	DisGeNET	Detail
Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.	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: rs28936700 dbSNP
Genome: hg38
Position: chr2:38,075,207-38,075,207
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 3334
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): 48032
Allele Counts in All Race (ExAC): 33
Heterozygous Counts in All Race (ExAC): 33
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 6.870419720186543E-4

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