RGD:8597720 Rat Genome Database

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Variant: RGD:8597720 -  Homo sapiens

RGD ID: 8597720
RS ID: rs74315336
ClinVar ID: CV22993
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYOC  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 171,605,313
GRCh38 1 171,636,173
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008859.1:g.21461A>G
NC_000001.11:g.171636173T>C
NC_000001.10:g.171605313T>C
NP_000252.1:p.Lys423Glu
More... 		05/09/2022 missense|missense variant pathogenic|likely pathogenic all ages|variable 1-9 / 100 000 Childhood glaucoma; Developmental glaucoma; Glaucoma hereditary, juvenile; Glaucoma, Dominant (Juvenile Onset); Infantile glaucoma; Juvenile open angle glaucoma; Pediatric glaucoma; 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: K to E (nonsynonymous)
Amino Acid Position: 423
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQSGRCQYTFSVASPNESSCPEQSQAMSVIHNLQRDSST
QRLDLEATKARLSSLESLLHQLTLDQAARPQETQEGLQRELGTLRRERDQLETQTRELETAYSNLLRDKSVLEEEKKRLR
QENENLARRLESSSQEVARLRRGQCPQTRDTARAVPPGSREVSTWNLDTLAFQELKSELTEVPASRILKESPSGYLRSGE
GDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYTQETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPR
PLESTGAVVYSGSLYFQGAESRTVIRYELNTETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGA
IVLSKLNPENLELEQTWETNIREQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYN
PLEKKLFAWDNLNMVTYDIKLSKM*
Variant Samples
Additional References at PubMed
PMID:6770678   PMID:9697688   PMID:15069026  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000008417 CLINVAR
  RCV002247273 CLINVAR
dbSNP (RS) rs74315336 CLINVAR
MedGen C1842028 CLINVAR
  C2981140 CLINVAR
NCBI Gene MYOC CLINVAR
OMIM 137750 CLINVAR
  601652 CLINVAR
OMIM Allele 601652.0010 CLINVAR
SNOMED CT 71111008 CLINVAR