chr2:38298187:G>A Detail (hg19) (CYP1B1, LOC128772254)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr2:38,298,187-38,298,187
hg38	chr2:38,071,044-38,071,044 View the variant detail on this assembly version.

HGVS

CYP1B1

Type	Transcript	Protein
RefSeq	NM_000104.3:c.1310C>T	NP_000095.2:p.Pro437Leu
Ensemble	ENST00000490576.2:c.1310C>T	ENST00000490576.2:p.Pro437Leu
	ENST00000494864.1:c.197C>T	ENST00000494864.1:p.Pro66Leu
	ENST00000610745.5:c.1310C>T	ENST00000610745.5:p.Pro437Leu
	ENST00000614273.1:c.1310C>T	ENST00000614273.1:p.Pro437Leu
	ENST00000714520.1:c.1310C>T	ENST00000714520.1:p.Pro437Leu

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 Likely 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 Likely pathogenic	2023-06-13	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-03-06	criteria provided, single submitter	anterior segment dysgenesis 6	unknown	Detail
Pathogenic	2023-12-21	criteria provided, single submitter	Congenital glaucoma	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.135	hydrophthalmos	Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp...	BeFree	12807732	Detail
0.320	GLAUCOMA 3, PRIMARY CONGENITAL, A	Molecular genetics of primary congenital glaucoma in Brazil.	UNIPROT	12036985	Detail
0.366	Glaucoma, Primary Open Angle	One each of POAG and PCG patients was detected to be heterozygous for CYP1B1 mut...	BeFree	15723004	Detail
0.025	primary congenital glaucoma	One each of POAG and PCG patients was detected to be heterozygous for CYP1B1 mut...	BeFree	15723004	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu) AND not provided	ClinVar	Detail
NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu) AND Anterior segment dysgenesis 6	ClinVar	Detail
NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu) AND Congenital glaucoma	ClinVar	Detail
Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp, Asp374Asn, Pro437L...	DisGeNET	Detail
Molecular genetics of primary congenital glaucoma in Brazil.	DisGeNET	Detail
One each of POAG and PCG patients was detected to be heterozygous for CYP1B1 mutation (c.1656C>T,...	DisGeNET	Detail
One each of POAG and PCG patients was detected to be heterozygous for CYP1B1 mutation (c.1656C>T,...	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: rs56175199 dbSNP
Genome: hg19
Position: chr2:38,298,187-38,298,187
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Homozygous Counts in All Race (ExAC): 0
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1555350127108852E-4
Chromosome Counts in All Race (ExAC): 121396
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 8.237503706876667E-6

Genome browser