RGD:12834526 Rat Genome Database

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Variant: RGD:12834526 -  Homo sapiens

RGD ID: 12834526
RS ID: rs750664148
ClinVar ID: CV363337
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYC  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 128,750,680
GRCh38 8 127,738,434
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.127738434A>C
NC_000008.10:g.128750680A>C
NP_002458.2:p.Thr73Pro
NG_007161.2:g.8001A>C
More... 		05/31/2016 missense variant likely pathogenic adult|childhood 1-5 / 10 000 Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Cutaneous melanoma; Esophageal carcinoma; LYMPHOMA, NON-HODGKIN, SOMATIC; Malignant lymphoma, non-Hodgkin; Malignant melanoma, somatic; Oesophageal carcinoma
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: T to P (nonsynonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LDFFRVVENQQPPATMPLNVSFTNRNYDLDYDSVQPYFYCDEEENFYQQQQQSELQPPAPSEDIWKKFELLPPPPLSPSR
RSGLCSPSYVAVTPFSLRGDNDGGGGSFSTADQLEMVTELLGGDMVNQSFICDPDDETFIKNIIIQDCMWSGFSAAAKLV
SEKLASYQAARKDSGSPNPARGHSVCSTSSLYLQDLSAAASECIDPSVVFPYPLNDSSSPKSCASQDSSAFSPSSDSLLS
STESSPQGSPEPLVLHEETPPTTSSDSEEEQEDEEEIDVVSVEKRQAPGKRSESGSPSAGGHSKPPHSPLVLKRCHVSTH
QHNYAAPPSTRKDYPAAKRVKLDSVRVLRQISNNRKCTSPRSSDTEENVKRRTHNVLERQRRNELKRSFFALRDQIPELE
NNEKAPKVVILKKATAYILSVQAEEQKLISEEDLLRKRREQLKHKLEQLRNSCA*

Gene Symbol:MYC
Accession:NM_001354870
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LDFFRVVENQPPATMPLNVSFTNRNYDLDYDSVQPYFYCDEEENFYQQQQQSELQPPAPSEDIWKKFELLPPPPLSPSRR
SGLCSPSYVAVTPFSLRGDNDGGGGSFSTADQLEMVTELLGGDMVNQSFICDPDDETFIKNIIIQDCMWSGFSAAAKLVS
EKLASYQAARKDSGSPNPARGHSVCSTSSLYLQDLSAAASECIDPSVVFPYPLNDSSSPKSCASQDSSAFSPSSDSLLSS
TESSPQGSPEPLVLHEETPPTTSSDSEEEQEDEEEIDVVSVEKRQAPGKRSESGSPSAGGHSKPPHSPLVLKRCHVSTHQ
HNYAAPPSTRKDYPAAKRVKLDSVRVLRQISNNRKCTSPRSSDTEENVKRRTHNVLERQRRNELKRSFFALRDQIPELEN
NEKAPKVVILKKATAYILSVQAEEQKLISEEDLLRKRREQLKHKLEQLRNSCA*
Variant Samples
Additional References at PubMed
PMID:26619011  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000420006 CLINVAR
  RCV000426528 CLINVAR
  RCV000437207 CLINVAR
  RCV000438328 CLINVAR
  RCV000445053 CLINVAR
dbSNP (RS) rs750664148 CLINVAR
MedGen C0024305 CLINVAR
  C0027819 CLINVAR
  C0151779 CLINVAR
  C0152013 CLINVAR
  C0152018 CLINVAR
NCBI Gene MYC CLINVAR
OMIM 190080 CLINVAR
  605027 CLINVAR
SNOMED CT 1929004 CLINVAR
  93655004 CLINVAR