chr2:38298338:C>G Detail (hg19) (CYP1B1)

Information

Genome

Assembly Position
hg19 chr2:38,298,338-38,298,338
hg38 chr2:38,071,195-38,071,195 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000104.3:c.1159G>C NP_000095.2:p.Glu387Gln
Ensemble ENST00000490576.2:c.1159G>C ENST00000490576.2:p.Glu387Gln
ENST00000494864.1:c.46G>C ENST00000494864.1:p.Glu16Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.135 hydrophthalmos NA CLINVAR Detail
0.366 Glaucoma, Primary Open Angle Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) af... UNIPROT 10227395 Detail
0.320 GLAUCOMA 3, PRIMARY CONGENITAL, A Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) af... UNIPROT 10227395 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary ... DisGeNET Detail
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary ... 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
rs55989760 dbSNP
Genome
hg19
Position
chr2:38,298,338-38,298,338
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser