RGD:402509591 Rat Genome Database

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Variant: RGD:402509591 -  Homo sapiens

RGD ID: 402509591
ClinVar ID: CV2944025
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX16  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 45,939,344
GRCh38 11 45,917,793
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004813.4:c.19C>T
NM_057174.3:c.19C>T
NG_008460.1:g.5331C>T
NG_008460.2:g.6029C>T
More... 		01/08/2024 synonymous variant likely benign ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL; ALD: Adrenoleukodystrophy, X-Linked; INFANTILE PHYTANIC ACID STORAGE DISEASE; PEROXISOME BIOGENESIS DISORDER (NALD/IRD); PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE); Peroxisome biogenesis disorders, Zellweger syndrome spectrum
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX16
Accession:XM_047427887
Location:5UTRS;EXON

Gene Symbol:PEX16
Accession:XM_047427888
Location:5UTRS;INTRON

Gene Symbol:PEX16
Accession:XM_047427886
Location:5UTRS;INTRON

Gene Symbol:PEX16
Accession:NM_057174
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKLRLLGLRYQEYVTRHPAATAQLETAVRGFSYLLAGRFADSHELSELVYSASNLLVLLNDGILRKELRKKLPVSLSQQ
KLLTWLSVLECVEVFMEMGAAKVWGEVGRWLVIALVQLAKAVLRMLLLLWFKAGLQTSPPIVPLDRETQAQPPDGDHSPG
NHEQSYVGKRSNRVVRTLQNTPSLHSRHWGAPQQREGRQQQHHEELSATPTPLGLQETIAEFLYIARPLLHLLSLGLWGQ
RSWKPWLLAGVVDVTSLSLLSDRKGLTRRERRELRRRTILLLYYLLRSPFYDRFSEARILFLLQLLADHVPGVGLVTTSQ
RAASPCLPARPHTQPWSPPAFLPGHP*

Gene Symbol:PEX16
Accession:NM_004813
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKLRLLGLRYQEYVTRHPAATAQLETAVRGFSYLLAGRFADSHELSELVYSASNLLVLLNDGILRKELRKKLPVSLSQQ
KLLTWLSVLECVEVFMEMGAAKVWGEVGRWLVIALVQLAKAVLRMLLLLWFKAGLQTSPPIVPLDRETQAQPPDGDHSPG
NHEQSYVGKRSNRVVRTLQNTPSLHSRHWGAPQQREGRQQQHHEELSATPTPLGLQETIAEFLYIARPLLHLLSLGLWGQ
RSWKPWLLAGVVDVTSLSLLSDRKGLTRRERRELRRRTILLLYYLLRSPFYDRFSEARILFLLQLLADHVPGVGLVTRPL
MDYLPTWQKIYFYSWG*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003645998 CLINVAR
MedGen C1832200 CLINVAR
NCBI Gene PEX16 CLINVAR
OMIM 601539 CLINVAR
  603360 CLINVAR