RGD:13535787 Rat Genome Database

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Variant: RGD:13535787 -  Homo sapiens

RGD ID: 13535787
RS ID: rs1553370205
ClinVar ID: CV498833
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYCN  MYCNOS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 16,082,061
GRCh38 2 15,941,939
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007457.1:g.6379C>T
NC_000002.12:g.15941939C>T
NC_000002.11:g.16082061C>T
NM_005378.4:c.-117-9C>T
More... 		07/20/2017 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MYCN
Accession:XM_047444434
Location:5UTRS;EXON

Gene Symbol:MYCN
Accession:NM_001293228
Location:5UTRS;INTRON

Gene Symbol:MYCN
Accession:NM_005378
Location:5UTRS;INTRON

Gene Symbol:MYCN
Accession:NM_001293233
Location:INTRON

Gene Symbol:MYCN
Accession:NM_001293231
Location:INTRON

Gene Symbol:MYCNOS
Accession:NR_110230
Location:INTRON;NON-CODING

Gene Symbol:MYCNOS
Accession:NR_161162
Location:INTRON;NON-CODING

Gene Symbol:MYCNOS
Accession:NR_161163
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000608043 CLINVAR
dbSNP (RS) rs1553370205 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MYCN CLINVAR
  MYCNOS CLINVAR
OMIM 164840 CLINVAR
  605374 CLINVAR