RGD:156408210 Rat Genome Database

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Variant: RGD:156408210 -  Homo sapiens

RGD ID: 156408210
ClinVar ID: CV1873321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX12  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 33,904,504
GRCh38 17 35,577,485
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.233C>T
NG_008447.1:g.6153C>T
NC_000017.11:g.35577485G>A
NC_000017.10:g.33904504G>A
More... 		06/01/2022 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: T to I (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRISA
SFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFL
AAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAV
GGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATS
GYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSPEN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003071173 CLINVAR
MedGen C3553929 CLINVAR
NCBI Gene PEX12 CLINVAR
OMIM 601758 CLINVAR
  614859 CLINVAR