RGD:13831477 Rat Genome Database

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Variant: RGD:13831477 -  Homo sapiens

RGD ID: 13831477
RS ID: rs1557569831
ClinVar ID: CV590037
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 43,897,129
GRCh38 1 43,431,458
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029091.1:g.46574A>G
NC_000001.11:g.43431458A>G
NC_000001.10:g.43897129A>G
NM_015284.3:c.4854-2A>G
More... 		splice acceptor variant likely pathogenic|not provided Abnormal cerebral white matter morphology; Abnormality of the anterior fontanelle; Abnormality of the cerebral white matter; Central hypotonia; Cryptorchidism, unilateral or bilateral; Deep plantar creases; Early infantile epileptic encephalopathy 18; Global developmental delay; large head; Macrocephalus; Macrocephaly; Seizure; Seizures; undescended testicle
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SZT2
Accession:NM_001365999
Location:INTRON

Gene Symbol:SZT2
Accession:NM_015284
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000735286 CLINVAR
  RCV001249341 CLINVAR
  RCV003156110 CLINVAR
dbSNP (RS) rs1557569831 CLINVAR
MedGen C0010417 CLINVAR
  C3809624 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 219050 CLINVAR
  615463 CLINVAR
  615476 CLINVAR