chr2:38071087:T>A Detail (hg38) (CYP1B1)

Information

Genome

Assembly Position
hg19 chr2:38,298,230-38,298,230 View the variant detail on this assembly version.
hg38 chr2:38,071,087-38,071,087

HGVS

Type Transcript Protein
RefSeq NM_000104.3:c.1267A>T NP_000095.2:p.Asn423Tyr
Ensemble ENST00000490576.2:c.1267A>T ENST00000490576.2:p.Asn423Tyr
ENST00000494864.1:c.154A>T ENST00000494864.1:p.Asn52Tyr
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 Likely pathogenic
Review star
Show details
Links
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 2004-09-01 no assertion criteria provided Glaucoma, primary open angle, juvenile-onset germline Detail
Pathogenic 2004-09-01 no assertion criteria provided Glaucoma 3A germline Detail
Likely pathogenic 2023-04-28 criteria provided, single submitter primary congenital glaucoma germline Detail
Likely pathogenic 2023-03-20 criteria provided, single submitter Congenital glaucoma germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.135 hydrophthalmos NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000104.4(CYP1B1):c.1267A>T (p.Asn423Tyr) AND Glaucoma, primary open angle, juvenile-onset ClinVar Detail
NM_000104.4(CYP1B1):c.1267A>T (p.Asn423Tyr) AND Glaucoma 3A ClinVar Detail
NM_000104.4(CYP1B1):c.1267A>T (p.Asn423Tyr) AND Primary congenital glaucoma ClinVar Detail
NM_000104.4(CYP1B1):c.1267A>T (p.Asn423Tyr) AND Congenital glaucoma ClinVar Detail
NA 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
rs104893629 dbSNP
Genome
hg38
Position
chr2:38,071,087-38,071,087
Variant Type
snv
Reference Allele
T
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8650
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)
121250
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.247422680412371E-6
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