RGD:12839842 Rat Genome Database

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Variant: RGD:12839842 -  Homo sapiens

RGD ID: 12839842
RS ID: rs1057519849
ClinVar ID: CV363177
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYC  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 128,750,632
GRCh38 8 127,738,386
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.127738386C>T
NC_000008.10:g.128750632C>T
NP_002458.2:p.Pro57Ser
NG_007161.2:g.7953C>T
More... 		07/14/2015 missense variant likely pathogenic Neoplasm (disease); Neoplasms
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Neoplasm  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:MYC
Accession:NM_001354870
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LDFFRVVENQPPATMPLNVSFTNRNYDLDYDSVQPYFYCDEEENFYQQQQQSELQSPAPSEDIWKKFELLPTPPLSPSRR
SGLCSPSYVAVTPFSLRGDNDGGGGSFSTADQLEMVTELLGGDMVNQSFICDPDDETFIKNIIIQDCMWSGFSAAAKLVS
EKLASYQAARKDSGSPNPARGHSVCSTSSLYLQDLSAAASECIDPSVVFPYPLNDSSSPKSCASQDSSAFSPSSDSLLSS
TESSPQGSPEPLVLHEETPPTTSSDSEEEQEDEEEIDVVSVEKRQAPGKRSESGSPSAGGHSKPPHSPLVLKRCHVSTHQ
HNYAAPPSTRKDYPAAKRVKLDSVRVLRQISNNRKCTSPRSSDTEENVKRRTHNVLERQRRNELKRSFFALRDQIPELEN
NEKAPKVVILKKATAYILSVQAEEQKLISEEDLLRKRREQLKHKLEQLRNSCA*

Gene Symbol:MYC
Accession:NM_002467
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LDFFRVVENQQPPATMPLNVSFTNRNYDLDYDSVQPYFYCDEEENFYQQQQQSELQSPAPSEDIWKKFELLPTPPLSPSR
RSGLCSPSYVAVTPFSLRGDNDGGGGSFSTADQLEMVTELLGGDMVNQSFICDPDDETFIKNIIIQDCMWSGFSAAAKLV
SEKLASYQAARKDSGSPNPARGHSVCSTSSLYLQDLSAAASECIDPSVVFPYPLNDSSSPKSCASQDSSAFSPSSDSLLS
STESSPQGSPEPLVLHEETPPTTSSDSEEEQEDEEEIDVVSVEKRQAPGKRSESGSPSAGGHSKPPHSPLVLKRCHVSTH
QHNYAAPPSTRKDYPAAKRVKLDSVRVLRQISNNRKCTSPRSSDTEENVKRRTHNVLERQRRNELKRSFFALRDQIPELE
NNEKAPKVVILKKATAYILSVQAEEQKLISEEDLLRKRREQLKHKLEQLRNSCA*
Variant Samples
Additional References at PubMed
PMID:25157968  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000429575 CLINVAR
dbSNP (RS) rs1057519849 CLINVAR
MedGen C0027651 CLINVAR
NCBI Gene MYC CLINVAR
OMIM 190080 CLINVAR
SNOMED CT 108369006 CLINVAR