RGD:151830942 Rat Genome Database

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Variant: RGD:151830942 -  Homo sapiens

RGD ID: 151830942
RS ID: rs764118613
ClinVar ID: CV1426539
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC112268030  RAD21  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 117,859,777
GRCh38 8 116,847,538
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.1858A>T
LRG_772:g.32329A>T
NG_032862.1:g.32329A>T
NC_000008.11:g.116847538T>A
More... 		10/28/2021 missense variant likely pathogenic 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: I to F (nonsynonymous)
Amino Acid Position: 620
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFYAHFVLSKRGPLAKIWLAAHWDKKLTKAHVFECNLESSVESIISPKVKMALRTSGHLLLGVVRIYHRKAKYLLADCNE
AFIKIKMAFRPGVVDLPEENREAAYNAITLPEEFHDFDQPLPDLDDIDVAQQFSLNQSRVEEITMREEVGNISILQENDF
GDFGMDDREIMREGSAFEDDDMLVSTTTSNLLLESEQSTSNLNEKINHLEYEDQYKDDNFGEGNDGGILDDKLISNNDGG
IFDDPPALSEAGVMLPEQPAHDDMDEDDNVSMGGPDSPDSVDPVEPMPTMTDQTTLVPNEEEAFALEPIDITVKETKAKR
KRKLIVDSVKELDSKTIRAQLSDYSDIVTTLDLAPPTKKLMMWKETGGVEKLFSLPAQPLWNNRLLKLFTRCLTPLVPED
LRKRRKGGEADNLDEFLKEFENPEVPREDQQQQHQQRDVIDEPIIEEPSRLQESVMEASRTNIDESAMPPPPPQGVKRKA
GQIDPEPVMPPQQVEQMEIPPVELPPEEPPNICQLIPELELLPEKEKEKEKEKEDDEEEEDEDASGGDQDQEERRWNKRT
QQMLHGLQRALAKTGAESISLLELCRNTNRKQAAAKFYSFLVLKKQQAIELTQEEPYSDFIATPGPRFHII*

Gene Symbol:LOC112268030
Accession:XR_002956724
Location:INTRON;NON-CODING

Gene Symbol:LOC112268030
Accession:XR_007061065
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001976645 CLINVAR
dbSNP (RS) rs764118613 CLINVAR
MedGen C3553517 CLINVAR
NCBI Gene RAD21 CLINVAR
OMIM 606462 CLINVAR
  614701 CLINVAR