RGD:8602631 Rat Genome Database

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Variant: RGD:8602631 -  Homo sapiens

RGD ID: 8602631
RS ID: rs387907212
ClinVar ID: CV44124
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD21  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 117,866,518
GRCh38 8 116,854,279
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_032862.1:g.25588C>G
NC_000008.11:g.116854279G>C
NC_000008.10:g.117866518G>C
LRG_772t1:c.1127C>G
More... 		01/28/2016 missense|missense variant pathogenic antenatal|neonatal/infancy 1-9 / 100 000 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: P to R (nonsynonymous)
Amino Acid Position: 376
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFYAHFVLSKRGPLAKIWLAAHWDKKLTKAHVFECNLESSVESIISPKVKMALRTSGHLLLGVVRIYHRKAKYLLADCNE
AFIKIKMAFRPGVVDLPEENREAAYNAITLPEEFHDFDQPLPDLDDIDVAQQFSLNQSRVEEITMREEVGNISILQENDF
GDFGMDDREIMREGSAFEDDDMLVSTTTSNLLLESEQSTSNLNEKINHLEYEDQYKDDNFGEGNDGGILDDKLISNNDGG
IFDDPPALSEAGVMLPEQPAHDDMDEDDNVSMGGPDSPDSVDPVEPMPTMTDQTTLVPNEEEAFALEPIDITVKETKAKR
KRKLIVDSVKELDSKTIRAQLSDYSDIVTTLDLAPPTKKLMMWKETGGVEKLFSLRAQPLWNNRLLKLFTRCLTPLVPED
LRKRRKGGEADNLDEFLKEFENPEVPREDQQQQHQQRDVIDEPIIEEPSRLQESVMEASRTNIDESAMPPPPPQGVKRKA
GQIDPEPVMPPQQVEQMEIPPVELPPEEPPNICQLIPELELLPEKEKEKEKEKEDDEEEEDEDASGGDQDQEERRWNKRT
QQMLHGLQRALAKTGAESISLLELCRNTNRKQAAAKFYSFLVLKKQQAIELTQEEPYSDIIATPGPRFHII*
Variant Samples
Additional References at PubMed
PMID:22633399  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000029138 CLINVAR
dbSNP (RS) rs387907212 CLINVAR
MedGen C3553517 CLINVAR
NCBI Gene RAD21 CLINVAR
OMIM 606462 CLINVAR
  614701 CLINVAR
OMIM Allele 606462.0001 CLINVAR