RGD:11625633 Rat Genome Database

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Variant: RGD:11625633 -  Homo sapiens

RGD ID: 11625633
RS ID: rs554408944
ClinVar ID: CV339938
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSTPIP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 77,329,610
GRCh38 15 77,037,269
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_172:g.47146C>T
NG_007526.1:g.47146C>T
NC_000015.10:g.77037269C>T
NC_000015.9:g.77329610C>T
More... 		01/12/2018 3 prime utr variant benign|likely benign childhood <1 / 1 000 000 Familial recurrent arthritis; Pyogenic arthritis, pyoderma gangrenosum and acne; Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne
Disease Annotations     Click to see Annotation Detail View
PAPA syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:PSTPIP1
Accession:NM_001321135
Location:3UTRS;EXON

Gene Symbol:PSTPIP1
Accession:XM_011522165
Location:3UTRS;EXON

Gene Symbol:PSTPIP1
Accession:NM_003978
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:PSTPIP1
Accession:XM_047433278
Location:3UTRS;EXON

Gene Symbol:PSTPIP1
Accession:NM_001321136
Location:3UTRS;EXON

Gene Symbol:PSTPIP1
Accession:NM_001321137
Location:3UTRS;EXON

Gene Symbol:PSTPIP1
Accession:XM_006720737
Location:3UTRS;EXON

Gene Symbol:PSTPIP1
Accession:XM_011522163
Location:3UTRS;EXON

Gene Symbol:PSTPIP1
Accession:XM_011522168
Location:3UTRS;EXON

Gene Symbol:PSTPIP1
Accession:NM_001411086
Location:3UTRS;EXON

Gene Symbol:PSTPIP1
Accession:NR_135552
Location:EXON;NON-CODING

Gene Symbol:PSTPIP1
Accession:XM_047433277
Location:INTRON

Gene Symbol:PSTPIP1
Accession:XM_011522169
Location:INTRON

Gene Symbol:PSTPIP1
Accession:XM_047433281
Location:INTRON

Gene Symbol:PSTPIP1
Accession:XM_047433276
Location:INTRON

Gene Symbol:PSTPIP1
Accession:XM_011522166
Location:INTRON

Gene Symbol:PSTPIP1
Accession:XM_047433280
Location:INTRON

Gene Symbol:PSTPIP1
Accession:XM_011522167
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000401441 CLINVAR
dbSNP (RS) rs554408944 CLINVAR
MedGen C1858361 CLINVAR
NCBI Gene PSTPIP1 CLINVAR
OMIM 604416 CLINVAR
  606347 CLINVAR