rs550035886 Rat Genome Database

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Variant: rs550035886 -  Homo sapiens

RGD ID: 28909046
RS ID: rs550035886
ClinVar ID: CV896674
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG2  RAB23  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 57,052,490
GRCh38 6 57,187,692
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_183227.2:c.*2769C>A
NM_016277.5:c.*2769C>A
NM_004282.4:c.*3502G>T
NG_012170.1:g.39589C>A
More... 		01/13/2018 3 prime utr variant uncertain significance ACPS 2; ACPS II; Acrocephalopolysyndactyly type 2; Acrocephalopolysyndactyly Type II; Carpenter syndrome 1
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV896674HumanCarpenter syndrome  IAGP 8554872ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type IIClinVar 
CV896674HumanCarpenter syndrome 1  IAGP 8554872ClinVar Annotator: match by term: Carpenter syndrome 1ClinVar 
Gene Symbol:BAG2
Accession:NM_004282
Location:3UTRS;EXON

Gene Symbol:RAB23
Accession:NM_016277
Location:3UTRS;EXON

Gene Symbol:RAB23
Accession:NM_183227
Location:3UTRS;EXON

Gene Symbol:RAB23
Accession:NM_001278666
Location:3UTRS;EXON

Gene Symbol:RAB23
Accession:NM_001278667
Location:3UTRS;EXON

Gene Symbol:RAB23
Accession:NM_001278668
Location:3UTRS;EXON

Gene Symbol:BAG2
Accession:XM_005249490
Location:3UTRS;EXON

Gene Symbol:BAG2
Accession:XM_011514999
Location:3UTRS;EXON

Gene Symbol:RAB23
Accession:NR_103822
Location:EXON;NON-CODING

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Database
Acc Id
Source(s)
ClinVar RCV001160392 CLINVAR
dbSNP (RS) rs550035886 CLINVAR
MedGen C4551510 CLINVAR
NCBI Gene BAG2 CLINVAR
  RAB23 CLINVAR
OMIM 201000 CLINVAR
  603882 CLINVAR
  606144 CLINVAR