RGD:11577691 Rat Genome Database

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Variant: RGD:11577691 -  Homo sapiens

RGD ID: 11577691
RS ID: rs140017103
ClinVar ID: CV277621
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYOC  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 171,621,448
GRCh38 1 171,652,308
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.5326T>A
NC_000001.11:g.171652308A>T
NC_000001.10:g.171621448A>T
NP_000252.1:p.Leu102Met
More... 		08/07/2023 missense 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

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: L to M (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQSGRCQYTFSVASPNESSCPEQSQAMSVIHNLQRDSST
QRLDLEATKARLSSLESLLHQMTLDQAARPQETQEGLQRELGTLRRERDQLETQTRELETAYSNLLRDKSVLEEEKKRLR
QENENLARRLESSSQEVARLRRGQCPQTRDTARAVPPGSREVSTWNLDTLAFQELKSELTEVPASRILKESPSGYLRSGE
GDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYTQETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPR
PLESTGAVVYSGSLYFQGAESRTVIRYELNTETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGA
IVLSKLNPENLELEQTWETNIRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYN
PLEKKLFAWDNLNMVTYDIKLSKM*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000265391 CLINVAR
  RCV000301813 CLINVAR
  RCV003319982 CLINVAR
dbSNP (RS) rs140017103 CLINVAR
MedGen C0017601 CLINVAR
  C0017612 CLINVAR
  C1842028 CLINVAR
NCBI Gene MYOC CLINVAR
OMIM 137750 CLINVAR
  601652 CLINVAR