RGD:13528411 Rat Genome Database

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Variant: RGD:13528411 -  Homo sapiens

RGD ID: 13528411
RS ID: rs1554699491
ClinVar ID: CV513436
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGTPBP1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 88,211,365
GRCh38 9 85,596,450
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.85596450C>A
NM_001286715.1:c.2492-1G>T
NC_000009.11:g.88211365C>A
NM_001330701.2:c.2336-1G>T
More... 		01/11/2019 splice acceptor variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AGTPBP1
Accession:XM_047423096
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423086
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423093
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423101
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423087
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423098
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_017014545
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423089
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423095
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423091
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_005251848
Location:INTRON

Gene Symbol:AGTPBP1
Accession:NM_001286717
Location:INTRON

Gene Symbol:AGTPBP1
Accession:NM_001330701
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423094
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423100
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_011518420
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_011518418
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423090
Location:INTRON

Gene Symbol:AGTPBP1
Accession:NM_001286715
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423088
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_011518421
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423097
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423092
Location:INTRON

Gene Symbol:AGTPBP1
Accession:NM_015239
Location:INTRON

Gene Symbol:AGTPBP1
Accession:XM_047423099
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:30420557  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000625986 CLINVAR
  RCV000735994 CLINVAR
dbSNP (RS) rs1554699491 CLINVAR
MedGen C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618276 CLINVAR
OMIM Allele 606830.0001 CLINVAR