RGD:38464766 Rat Genome Database

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Variant: RGD:38464766 -  Homo sapiens

RGD ID: 38464766
RS ID: rs760261220
ClinVar ID: CV961517
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD21  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 117,868,492
GRCh38 8 116,856,253
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_772t1:c.850G>A
NM_006265.3:c.850G>A
LRG_772:g.23614G>A
NG_032862.1:g.23614G>A
More... 		02/21/2022 missense 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:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFYAHFVLSKRGPLAKIWLAAHWDKKLTKAHVFECNLESSVESIISPKVKMALRTSGHLLLGVVRIYHRKAKYLLADCNE
AFIKIKMAFRPGVVDLPEENREAAYNAITLPEEFHDFDQPLPDLDDIDVAQQFSLNQSRVEEITMREEVGNISILQENDF
GDFGMDDREIMREGSAFEDDDMLVSTTTSNLLLESEQSTSNLNEKINHLEYEDQYKDDNFGEGNDGGILDDKLISNNDGG
IFDDPPALSEAGVMLPEQPAHDDMDEDDNVSMGGPDSPDSVDPIEPMPTMTDQTTLVPNEEEAFALEPIDITVKETKAKR
KRKLIVDSVKELDSKTIRAQLSDYSDIVTTLDLAPPTKKLMMWKETGGVEKLFSLPAQPLWNNRLLKLFTRCLTPLVPED
LRKRRKGGEADNLDEFLKEFENPEVPREDQQQQHQQRDVIDEPIIEEPSRLQESVMEASRTNIDESAMPPPPPQGVKRKA
GQIDPEPVMPPQQVEQMEIPPVELPPEEPPNICQLIPELELLPEKEKEKEKEKEDDEEEEDEDASGGDQDQEERRWNKRT
QQMLHGLQRALAKTGAESISLLELCRNTNRKQAAAKFYSFLVLKKQQAIELTQEEPYSDIIATPGPRFHII*
Variant Samples
Additional References at PubMed
PMID:24378232   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001249742 CLINVAR
dbSNP (RS) rs760261220 CLINVAR
MedGen C3553517 CLINVAR
NCBI Gene RAD21 CLINVAR
OMIM 606462 CLINVAR
  614701 CLINVAR