rs398124465 Rat Genome Database

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Variant: rs398124465 -  Homo sapiens

RGD ID: 8643247
RS ID: rs398124465
ClinVar ID: CV102230
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: NIPBL  
Reference Nucleotide: AG
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 5 36,985,762 - 36,985,764
GRCh38 5 36,985,660 - 36,985,662
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Prevalence
Trait Synonyms
c.2479_2480del(p.R827Gfs*2)
NM_015384.5:c.2479_2480del
NM_133433.4:c.2479_2480del
NG_006987.2:g.113777_113778del
More... 		11/28/2022 frameshift variant pathogenic antenatal|neonatal/infancy cornelia de lange syndrome occurs in 1 in 10-100,000 live births. Brachmann de Lange syndrome; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Typus degenerativus amstelodamensis
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV102230HumanCornelia de Lange syndrome 1  IAGP 8554872ClinVar Annotator: match by term: Cornelia de Lange syndrome 1ClinVarPMID:15318302 more ...


.
PMID:15318302   PMID:17661813   PMID:18414213   PMID:19763162   PMID:20358602   PMID:20824775   PMID:23505322   PMID:25741868   PMID:28492532   PMID:29995837   PMID:30158690  



1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV000082485 CLINVAR
  RCV000146547 CLINVAR
dbSNP (RS) rs398124465 CLINVAR
MedGen C3661900 CLINVAR
  C4551851 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR
OMIM Allele 608667.0007 CLINVAR
1 to 9 of 9 rows