RGD:28867712 Rat Genome Database

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Variant: RGD:28867712 -  Homo sapiens

RGD ID: 28867712
RS ID: rs549684091
ClinVar ID: CV896685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG2  RAB23  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 57,053,251
GRCh38 6 57,188,453
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_183227.2:c.*2008G>A
NM_001278667.2:c.*2008G>A
NM_001278668.2:c.*2008G>A
NM_183227.3:c.*2008G>A
More... 		01/13/2018 3 prime utr variant uncertain significance ACPS 2; ACPS II; Acrocephalopolysyndactyly type 2; Acrocephalopolysyndactyly Type II; Carpenter syndrome 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAB23
Accession:NM_001278666
Location:3UTRS;EXON

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

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

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

Gene Symbol:BAG2
Accession:NM_004282
Location:3UTRS;EXON

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001162048 CLINVAR
dbSNP (RS) rs549684091 CLINVAR
MedGen C4551510 CLINVAR
NCBI Gene BAG2 CLINVAR
  RAB23 CLINVAR
OMIM 201000 CLINVAR
  603882 CLINVAR
  606144 CLINVAR