RGD:11039913 Rat Genome Database

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Variant: RGD:11039913 -  Homo sapiens

RGD ID: 11039913
RS ID: rs869025343
ClinVar ID: CV223780
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NONO  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,517,788
GRCh38 X 71,297,938
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.71297938G>A
NC_000023.10:g.70517788G>A
NP_001138880.1:p.Ala377=
NG_046742.1:g.19747G>A
More... 		05/06/2022 synonymous variant pathogenic Intellectual developmental disorder, X-linked syndromic 34; MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NONO
Accession:NM_001145410
Location:INTRON

Gene Symbol:NONO
Accession:NM_001145409
Location:INTRON

Gene Symbol:NONO
Accession:NM_001145408
Location:INTRON

Gene Symbol:NONO
Accession:NM_007363
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26571461  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000207522 CLINVAR
  RCV000306159 CLINVAR
  RCV001267583 CLINVAR
dbSNP (RS) rs869025343 CLINVAR
MedGen C0950123 CLINVAR
  C4225417 CLINVAR
  CN517202 CLINVAR
NCBI Gene NONO CLINVAR
OMIM 300084 CLINVAR
  300967 CLINVAR
OMIM Allele 300084.0001 CLINVAR