RGD:405053990 Rat Genome Database

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Variant: RGD:405053990 -  Homo sapiens

RGD ID: 405053990
ClinVar ID: CV2885896
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD21  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 117,868,879
GRCh38 8 116,856,640
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006265.3:c.814+6C>G
LRG_772:g.23227C>G
NG_032862.1:g.23227C>G
NC_000008.11:g.116856640G>C
More... 		07/29/2023 intron variant 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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003531414 CLINVAR
MedGen C3553517 CLINVAR
NCBI Gene RAD21 CLINVAR
OMIM 606462 CLINVAR
  614701 CLINVAR