chr2:38298329:G>T Detail (hg19) (CYP1B1)

Information

Genome

Assembly Position
hg19 chr2:38,298,329-38,298,329
hg38 chr2:38,071,186-38,071,186 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000104.3:c.1168C>A NP_000095.2:p.Arg390Ser
Ensemble ENST00000490576.2:c.1168C>A ENST00000490576.2:p.Arg390Ser
ENST00000494864.1:c.55C>A ENST00000494864.1:p.Arg19Ser
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
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 2023-03-21 criteria provided, single submitter Congenital glaucoma germline Detail
Pathogenic 2023-10-19 criteria provided, single submitter primary congenital glaucoma germline Detail
Pathogenic 2023-05-23 criteria provided, single submitter anterior segment dysgenesis 6 unknown 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

DescrptionSourceLinks
NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser) AND Congenital glaucoma ClinVar Detail
NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser) AND Primary congenital glaucoma ClinVar Detail
NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser) AND Anterior segment dysgenesis 6 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
-
Genome
hg19
Position
chr2:38,298,329-38,298,329
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6915608031530693E-5
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