RGD:156398274 Rat Genome Database

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Variant: RGD:156398274 -  Homo sapiens

RGD ID: 156398274
ClinVar ID: CV2187549
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD21  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 117,869,025
GRCh38 8 116,856,786
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.689-15C>T
LRG_772:g.23081C>T
NG_032862.1:g.23081C>T
NC_000008.11:g.116856786G>A
More... 		08/22/2022 intron variant likely benign 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 RCV003052070 CLINVAR
MedGen C3553517 CLINVAR
NCBI Gene RAD21 CLINVAR
OMIM 606462 CLINVAR
  614701 CLINVAR