RGD:14692943 Rat Genome Database

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Variant: RGD:14692943 -  Homo sapiens

RGD ID: 14692943
RS ID: rs757551979
ClinVar ID: CV619972
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYOC  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 171,621,409
GRCh38 1 171,652,269
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.5365G>T
NM_000261.1:c.343G>T
NM_000261.2:c.343G>T
NC_000001.11:g.171652269C>A
More... 		08/07/2023 nonsense uncertain significance
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: E to * (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQSGRCQYTFSVASPNESSCPEQSQAMSVIHNLQRDSST
QRLDLEATKARLSSLESLLHQLTLDQAARPQETQ*GLQRELGTLRRERDQLETQTRELETAYSNLLRDKSVLEEEKKRLR
QENENLARRLESSSQEVARLRRGQCPQTRDTARAVPPGSREVSTWNLDTLAFQELKSELTEVPASRILKESPSGYLRSGE
GDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYTQETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPR
PLESTGAVVYSGSLYFQGAESRTVIRYELNTETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGA
IVLSKLNPENLELEQTWETNIRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYN
PLEKKLFAWDNLNMVTYDIKLSKM*
Variant Samples
Additional References at PubMed
PMID:26633542  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000778199 CLINVAR
  RCV003319990 CLINVAR
dbSNP (RS) rs757551979 CLINVAR
MedGen C0017612 CLINVAR
  CN239330 CLINVAR
NCBI Gene MYOC CLINVAR
OMIM 601652 CLINVAR