chr2:38296890:T>C Detail (hg19) (CYP1B1)

Information

Genome

Assembly Position
hg19 chr2:38,296,890-38,296,890
hg38 chr2:38,069,747-38,069,747 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000104.3:c.*975A>G
Ensemble ENST00000490576.2:c.*975A>G
ENST00000610745.5:c.*975A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.854
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
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 tgv6523772 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-12 criteria provided, single submitter Glaucoma 3A germline Detail
Benign 2018-01-12 criteria provided, single submitter Irido-corneo-trabecular dysgenesis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Gastrointestinal Stromal Tumors Although none of the association p-values were statistically significant after a... BeFree 23637977 Detail
0.760 Gastrointestinal Stromal Tumors Although none of the association p-values were statistically significant after a... BeFree 23637977 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000104.4(CYP1B1):c.*975A>G AND Glaucoma 3A ClinVar Detail
NM_000104.4(CYP1B1):c.*975A>G AND Irido-corneo-trabecular dysgenesis ClinVar Detail
Although none of the association p-values were statistically significant after adjustment for multip... DisGeNET Detail
Although none of the association p-values were statistically significant after adjustment for multip... 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
rs2855658 dbSNP
Genome
hg19
Position
chr2:38,296,890-38,296,890
Variant Type
snv
Reference Allele
T
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2855658
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8545
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14321
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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