RGD:152048381 Rat Genome Database

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Variant: RGD:152048381 -  Homo sapiens

RGD ID: 152048381
RS ID: rs142366840
ClinVar ID: CV1622928
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NONO  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 70,510,652
GRCh38 X 71,290,802
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145410.2:c.-113-977G>C
NM_001145408.2:c.154+11G>C
NM_001145409.2:c.154+11G>C
NM_007363.5:c.154+11G>C
More... 		11/21/2021 intron variant benign|likely benign 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:5UTRS;INTRON

Gene Symbol:NONO
Accession:NM_001145408
Location:INTRON

Gene Symbol:NONO
Accession:NM_001145409
Location:INTRON

Gene Symbol:NONO
Accession:NM_007363
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002126922 CLINVAR
  RCV002507997 CLINVAR
dbSNP (RS) rs142366840 CLINVAR
MedGen C3661900 CLINVAR
  C4225417 CLINVAR
NCBI Gene NONO CLINVAR
OMIM 300084 CLINVAR
  300967 CLINVAR