chr2:38071234: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	chr2:38,298,377-38,298,377 View the variant detail on this assembly version.
hg38	chr2:38,071,234-38,071,234

HGVS

CYP1B1

Type	Transcript	Protein
RefSeq	NM_000104.3:c.1120G>A	NP_000095.2:p.Asp374Asn
Ensemble	ENST00000490576.2:c.1120G>A	ENST00000490576.2:p.Asp374Asn
	ENST00000494864.1:c.7G>A	ENST00000494864.1:p.Asp3Asn
	ENST00000610745.5:c.1120G>A	ENST00000610745.5:p.Asp374Asn
	ENST00000614273.1:c.1120G>A	ENST00000614273.1:p.Asp374Asn
	ENST00000714520.1:c.1120G>A	ENST00000714520.1:p.Asp374Asn

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Conflicting interpretations of pathogenicity	2017-12-30	no assertion criteria provided	Glaucoma 3A	germline unknown	Detail
Likely pathogenic	2022-12-17	criteria provided, single submitter	not provided	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

Annotation

Annotations

Descrption	Source	Links
NM_000104.4(CYP1B1):c.1120G>A (p.Asp374Asn) AND Glaucoma 3A	ClinVar	Detail
NM_000104.4(CYP1B1):c.1120G>A (p.Asp374Asn) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp, Asp374Asn, Pro437L...	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: rs104893622 dbSNP
Genome: hg38
Position: chr2:38,071,234-38,071,234
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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