RGD:11648923 Rat Genome Database

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Variant: RGD:11648923 -  Homo sapiens

RGD ID: 11648923
RS ID: rs886045564
ClinVar ID: CV277405
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYOC  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 171,604,994
GRCh38 1 171,635,854
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008859.1:g.21780G>A
NC_000001.11:g.171635854C>T
NC_000001.10:g.171604994C>T
NM_000261.2:c.*71G>A
More... 		06/14/2016 3 prime utr variant uncertain significance Glaucoma hereditary, juvenile; Glaucoma, Dominant (Juvenile Onset); Primary open angle glaucoma juvenile onset 1
Disease Annotations     Click to see Annotation Detail View
glaucoma  (IAGP)
juvenile glaucoma  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Glaucoma  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:MYOC
Accession:NM_000261
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000284655 CLINVAR
  RCV000403727 CLINVAR
dbSNP (RS) rs886045564 CLINVAR
MedGen C0017601 CLINVAR
  C1842028 CLINVAR
NCBI Gene MYOC CLINVAR
OMIM 137750 CLINVAR
  601652 CLINVAR