RGD:13622943 Rat Genome Database

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Variant: RGD:13622943 -  Homo sapiens

RGD ID: 13622943
RS ID: rs752213732
ClinVar ID: CV523218
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD21  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 117,875,502
GRCh38 8 116,863,263
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006265.2:c.145-4A>G
LRG_772t1:c.145-4A>G
LRG_772:g.16604A>G
NG_032862.1:g.16604A>G
More... 		07/15/2019 intron variant benign|likely benign|uncertain significance CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAD21
Accession:NM_006265
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000650453 CLINVAR
  RCV002315971 CLINVAR
dbSNP (RS) rs752213732 CLINVAR
MedGen C0950123 CLINVAR
  C3553517 CLINVAR
NCBI Gene RAD21 CLINVAR
OMIM 606462 CLINVAR
  614701 CLINVAR