rs9439458 Rat Genome Database

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Variant: rs9439458 -  Homo sapiens

RGD ID: 150409690
RS ID: rs9439458
ClinVar ID: CV1175258
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATAD3A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 1,451,380
GRCh38 1 1,516,000
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_018188.5:c.206-12T>C
NC_000001.11:g.1516000T>C
NC_000001.10:g.1451380T>C
NM_001170535.2:c.206-12T>C
More... 		01/24/2024 intron variant benign AllHighlyPenetrant; none provided; Optic atrophy-peripheral neuropathy-developmental delay syndrome; PHRINL SYNDROME
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1175258HumanHarel-Yoon syndrome  IAGP 8554872ClinVar Annotator: match by term: Harel-Yoon syndromeClinVarPMID:25741868
CV1175258Humanneonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome  IAGP 8554872ClinVar Annotator: match by term: Pontocerebellar hypoplasia more ...ClinVarPMID:25741868
Gene Symbol:ATAD3A
Accession:NM_001170536
Location:5UTRS;INTRON

Gene Symbol:ATAD3A
Accession:NM_001170535
Location:INTRON

Gene Symbol:ATAD3A
Accession:NM_018188
Location:INTRON

Gene Symbol:ATAD3A
Accession:XM_047424288
Location:INTRON

Gene Symbol:ATAD3A
Accession:XM_047424290
Location:INTRON

Gene Symbol:ATAD3A
Accession:XM_047424289
Location:INTRON

.
PMID:25741868  



1 to 13 of 13 rows
Database
Acc Id
Source(s)
ClinVar RCV001544216 CLINVAR
  RCV001544217 CLINVAR
  RCV003487468 CLINVAR
  RCV004714268 CLINVAR
dbSNP (RS) rs9439458 CLINVAR
MedGen C3661900 CLINVAR
  C4310677 CLINVAR
  C5394137 CLINVAR
  CN169374 CLINVAR
NCBI Gene ATAD3A CLINVAR
OMIM 612316 CLINVAR
  617183 CLINVAR
  618810 CLINVAR
1 to 13 of 13 rows