RGD:401830036 Rat Genome Database

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Variant: RGD:401830036 -  Homo sapiens

RGD ID: 401830036
ClinVar ID: CV2747638
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POGZ  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 151,400,297
GRCh38 1 151,427,821
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001194937.2:c.1051+2T>C
NM_015100.4:c.1078+2T>C
NM_001410860.1:c.1099+2T>C
NM_145796.4:c.793+2T>C
More... 		05/22/2023 splice donor variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2747638HumanWhite-Sutton syndrome  IAGP 8554872ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndromeClinVar 
Gene Symbol:POGZ
Accession:XM_047450070
Location:5UTRS;INTRON

Gene Symbol:POGZ
Accession:NM_207171
Location:INTRON

Gene Symbol:POGZ
Accession:NM_145796
Location:INTRON

Gene Symbol:POGZ
Accession:XM_017000746
Location:INTRON

Gene Symbol:POGZ
Accession:NM_001194937
Location:INTRON

Gene Symbol:POGZ
Accession:XM_047450069
Location:INTRON

Gene Symbol:POGZ
Accession:XM_047450064
Location:INTRON

Gene Symbol:POGZ
Accession:NM_001410860
Location:INTRON

Gene Symbol:POGZ
Accession:XM_005245000
Location:INTRON

Gene Symbol:POGZ
Accession:XM_017000748
Location:INTRON

Gene Symbol:POGZ
Accession:XM_047450068
Location:INTRON

Gene Symbol:POGZ
Accession:XM_047450074
Location:INTRON

Gene Symbol:POGZ
Accession:XM_005245005
Location:INTRON

Gene Symbol:POGZ
Accession:NM_015100
Location:INTRON

Gene Symbol:POGZ
Accession:XM_047450065
Location:INTRON

Gene Symbol:POGZ
Accession:NM_001194938
Location:INTRON

.


Database
Acc Id
Source(s)
ClinVar RCV003329197 CLINVAR
MedGen C4225351 CLINVAR
NCBI Gene POGZ CLINVAR
OMIM 614787 CLINVAR
  616364 CLINVAR