RGD:8599070 Rat Genome Database

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Variant: RGD:8599070 -  Homo sapiens

RGD ID: 8599070
RS ID: rs121918684
ClinVar ID: CV27615
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYC  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 128,750,625
GRCh38 8 127,738,379
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
NC_000008.11:g.127738379G>C
NC_000008.10:g.128750625G>C
NP_002458.2:p.Glu54Asp
NG_007161.2:g.7946G>C
More... 		12/05/2013 missense|missense variant pathogenic all ages|variable 1-9 / 1 000 000 Burkitt's lymphoma; Familial Burkitt's lymphoma
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:MYC
Accession:NM_002467
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LDFFRVVENQQPPATMPLNVSFTNRNYDLDYDSVQPYFYCDEEENFYQQQQQSDLQPPAPSEDIWKKFELLPTPPLSPSR
RSGLCSPSYVAVTPFSLRGDNDGGGGSFSTADQLEMVTELLGGDMVNQSFICDPDDETFIKNIIIQDCMWSGFSAAAKLV
SEKLASYQAARKDSGSPNPARGHSVCSTSSLYLQDLSAAASECIDPSVVFPYPLNDSSSPKSCASQDSSAFSPSSDSLLS
STESSPQGSPEPLVLHEETPPTTSSDSEEEQEDEEEIDVVSVEKRQAPGKRSESGSPSAGGHSKPPHSPLVLKRCHVSTH
QHNYAAPPSTRKDYPAAKRVKLDSVRVLRQISNNRKCTSPRSSDTEENVKRRTHNVLERQRRNELKRSFFALRDQIPELE
NNEKAPKVVILKKATAYILSVQAEEQKLISEEDLLRKRREQLKHKLEQLRNSCA*

Gene Symbol:MYC
Accession:NM_001354870
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LDFFRVVENQPPATMPLNVSFTNRNYDLDYDSVQPYFYCDEEENFYQQQQQSDLQPPAPSEDIWKKFELLPTPPLSPSRR
SGLCSPSYVAVTPFSLRGDNDGGGGSFSTADQLEMVTELLGGDMVNQSFICDPDDETFIKNIIIQDCMWSGFSAAAKLVS
EKLASYQAARKDSGSPNPARGHSVCSTSSLYLQDLSAAASECIDPSVVFPYPLNDSSSPKSCASQDSSAFSPSSDSLLSS
TESSPQGSPEPLVLHEETPPTTSSDSEEEQEDEEEIDVVSVEKRQAPGKRSESGSPSAGGHSKPPHSPLVLKRCHVSTHQ
HNYAAPPSTRKDYPAAKRVKLDSVRVLRQISNNRKCTSPRSSDTEENVKRRTHNVLERQRRNELKRSFFALRDQIPELEN
NEKAPKVVILKKATAYILSVQAEEQKLISEEDLLRKRREQLKHKLEQLRNSCA*
Variant Samples
Additional References at PubMed
PMID:8220424  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000013404 CLINVAR
dbSNP (RS) rs121918684 CLINVAR
MedGen C0006413 CLINVAR
NCBI Gene MYC CLINVAR
OMIM 113970 CLINVAR
  190080 CLINVAR
OMIM Allele 190080.0003 CLINVAR
SNOMED CT 77381001 CLINVAR