RGD:11550208 Rat Genome Database

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Variant: RGD:11550208 -  Homo sapiens

RGD ID: 11550208
RS ID: rs116059308
ClinVar ID: CV250754
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX13  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 61,259,135
GRCh38 2 61,032,000
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008665.1:g.19324A>G
NC_000002.12:g.61032000A>G
NC_000002.11:g.61259135A>G
NP_002609.1:p.Asp225Gly
More...
12/31/2019 missense variant benign|likely benign AllHighlyPenetrant; none provided; Peroxisome biogenesis disorder 11A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX13
Accession:NM_002618
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 225
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASQPPPPPKPWETRRIPGAGPGPGPGPTFQSADLGPTLMTRPGQPALTRVPPPILPRPSQQTGSSSVNTFRPAYSSFSS
GYGAYGNSFYGGYSPYSYGYNGLGYNRLRVDDLPPSRFVQQAEESSRGAFQSIESIVHAFASVSMMMDATFSAVYNSFRA
VLDVANHFSRLKIHFTKVFSAFALVRTIRYLYRRLQRMLGLRRGSENEDLWAESEGTVACLGAEGRAATSAKSWPIFLFF
AVILGGPYLIWKLLSTHSDEVTDSINWASGEDDHVVARAEYDFAAVSEEEISFRAGDMLNLALKEQQPKVRGWLLASLDG
QTTGLIPANYVKILGKRKGRKTVESSKVSKQQQSFTNPTLTKGATVADSLDEQEAAFESVFVETNKVPVAPDSIGKDGEK
QDL*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251440 CLINVAR
  RCV000442022 CLINVAR
  RCV001083261 CLINVAR
dbSNP (RS) rs116059308 CLINVAR
MedGen C3554000 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PEX13 CLINVAR
OMIM 601789 CLINVAR
  614883 CLINVAR