rs1641722871 Rat Genome Database

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Variant: rs1641722871 -  Homo sapiens

RGD ID: 42723222
RS ID: rs1641722871
ClinVar ID: CV980423
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: ATAD3A  
Reference Nucleotide: -
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 1,459,704
GRCh38 1 1,524,324
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_018188.5:c.1285dup
NM_001170536.3:c.904dup
NG_053035.1:g.17182dup
NM_001170535.1:c.1141dupG
More... 		frameshift variant likely pathogenic Optic atrophy-peripheral neuropathy-developmental delay syndrome
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV980423HumanHarel-Yoon syndrome  IAGP 8554872ClinVar Annotator: match by term: Harel-Yoon syndromeClinVarPMID:25741868


.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV001293245 CLINVAR
dbSNP (RS) rs1641722871 CLINVAR
MedGen C4310677 CLINVAR
NCBI Gene ATAD3A CLINVAR
OMIM 612316 CLINVAR
  617183 CLINVAR