RGD:11601328 Rat Genome Database

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Variant: RGD:11601328 -  Homo sapiens

RGD ID: 11601328
RS ID: rs200230025
ClinVar ID: CV307292
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADAMTS13  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 136,291,053
GRCh38 9 133,425,933
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_544t1:c.415-5C>T
LRG_544:g.16595C>T
NG_011934.2:g.16595C>T
NC_000009.12:g.133425933C>T
More... 		02/01/2022 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Congenital Thrombotic Thrombocytopenic Purpura; none provided; THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ADAMTS13
Accession:XM_017014234
Location:5UTRS;INTRON

Gene Symbol:ADAMTS13
Accession:NM_139026
Location:INTRON

Gene Symbol:ADAMTS13
Accession:XM_017014235
Location:INTRON

Gene Symbol:ADAMTS13
Accession:XM_011518176
Location:INTRON

Gene Symbol:ADAMTS13
Accession:XM_017014233
Location:INTRON

Gene Symbol:ADAMTS13
Accession:NM_139025
Location:INTRON

Gene Symbol:ADAMTS13
Accession:XM_011518178
Location:INTRON

Gene Symbol:ADAMTS13
Accession:XM_047422699
Location:INTRON

Gene Symbol:ADAMTS13
Accession:NM_139027
Location:INTRON

Gene Symbol:ADAMTS13
Accession:XM_011518179
Location:INTRON

Gene Symbol:ADAMTS13
Accession:XM_047422700
Location:INTRON

Gene Symbol:ADAMTS13
Accession:XM_017014232
Location:INTRON

Gene Symbol:ADAMTS13
Accession:NR_024514
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000281583 CLINVAR
  RCV000929988 CLINVAR
  RCV003387835 CLINVAR
dbSNP (RS) rs200230025 CLINVAR
MedGen C1268935 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ADAMTS13 CLINVAR
OMIM 274150 CLINVAR
  604134 CLINVAR
SNOMED CT 373420004 CLINVAR