RGD:28890431 Rat Genome Database

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Variant: RGD:28890431 -  Homo sapiens

RGD ID: 28890431
RS ID: rs572548236
ClinVar ID: CV884818
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP1B1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 38,295,367
GRCh38 2 38,068,224
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008386.2:g.12878T>C
NC_000002.12:g.38068224A>G
NC_000002.11:g.38295367A>G
NM_000104.3:c.*2498T>C
More... 		01/13/2018 3 prime utr variant uncertain significance ANTERIOR SEGMENT DYSGENESIS 5; Glaucoma 3, primary congenital, A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP1B1
Accession:NM_000104
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001139037 CLINVAR
  RCV001139038 CLINVAR
dbSNP (RS) rs572548236 CLINVAR
MedGen C0344559 CLINVAR
  C1856439 CLINVAR
NCBI Gene CYP1B1 CLINVAR
OMIM 231300 CLINVAR
  601771 CLINVAR
  604229 CLINVAR
SNOMED CT 204153003 CLINVAR