chr2:38298203:> Detail (hg19) (CYP1B1, LOC128772254)

Information

Genome

Assembly Position
hg19 chr2:38,298,203-38,298,203
hg38 chr2:38,071,060-38,071,060 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-02-01 criteria provided, single submitter Congenital glaucoma germline Detail
Benign 2022-05-04 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000104.4(CYP1B1):c.1294C>G (p.Leu432Val) AND Congenital glaucoma ClinVar Detail
NM_000104.4(CYP1B1):c.1294C>G (p.Leu432Val) AND not specified ClinVar 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
chr2:38,298,203-38,298,203
Variant Type
snv
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