RGD:155932333 Rat Genome Database

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Variant: RGD:155932333 -  Homo sapiens

RGD ID: 155932333
ClinVar ID: CV1919628
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX12  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 33,903,054
GRCh38 17 35,576,035
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000286.3:c.827T>C
NG_008447.1:g.7603T>C
NC_000017.11:g.35576035A>G
NC_000017.10:g.33903054A>G
More... 		03/12/2022 missense variant uncertain significance PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER); Peroxisome biogenesis disorder 3A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX12
Accession:NM_000286
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRTSA
SFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFL
AAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAV
GGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSSTALPTPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATS
GYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSPEN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002615070 CLINVAR
MedGen C3553929 CLINVAR
NCBI Gene PEX12 CLINVAR
OMIM 601758 CLINVAR
  614859 CLINVAR