RGD:28886919 Rat Genome Database

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Variant: RGD:28886919 -  Homo sapiens

RGD ID: 28886919
RS ID: rs750333892
ClinVar ID: CV862812
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYOC  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 171,605,779
GRCh38 1 171,636,639
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.20995T>C
NC_000001.11:g.171636639A>G
NC_000001.10:g.171605779A>G
NM_000261.1:c.801T>C
More... 		04/03/2023 synonymous variant likely benign|uncertain significance Glaucoma hereditary, juvenile; Glaucoma, Dominant (Juvenile Onset); Primary open angle glaucoma juvenile onset 1
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:MYOC
Accession:NM_000261
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 267
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQSGRCQYTFSVASPNESSCPEQSQAMSVIHNLQRDSST
QRLDLEATKARLSSLESLLHQLTLDQAARPQETQEGLQRELGTLRRERDQLETQTRELETAYSNLLRDKSVLEEEKKRLR
QENENLARRLESSSQEVARLRRGQCPQTRDTARAVPPGSREVSTWNLDTLAFQELKSELTEVPASRILKESPSGYLRSGE
GDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYTQETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPR
PLESTGAVVYSGSLYFQGAESRTVIRYELNTETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGA
IVLSKLNPENLELEQTWETNIRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYN
PLEKKLFAWDNLNMVTYDIKLSKM*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001098612 CLINVAR
  RCV001098613 CLINVAR
  RCV003160622 CLINVAR
dbSNP (RS) rs750333892 CLINVAR
MedGen C0017601 CLINVAR
  C0017612 CLINVAR
  C1842028 CLINVAR
NCBI Gene MYOC CLINVAR
OMIM 137750 CLINVAR
  601652 CLINVAR