RGD:156123930 Rat Genome Database

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Variant: RGD:156123930 -  Homo sapiens

RGD ID: 156123930
ClinVar ID: CV1995146
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX16  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 45,935,428
GRCh38 11 45,913,877
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.829C>T
NM_057174.3:c.829C>T
NG_008460.1:g.9247C>T
NG_008460.2:g.9945C>T
More... 		11/28/2021 missense variant uncertain significance 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:NM_057174
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 277
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKLRLLGLRYQEYVTRHPAATAQLETAVRGFSYLLAGRFADSHELSELVYSASNLLVLLNDGILRKELRKKLPVSLSQQ
KLLTWLSVLECVEVFMEMGAAKVWGEVGRWLVIALVQLAKAVLRMLLLLWFKAGLQTSPPIVPLDRETQAQPPDGDHSPG
NHEQSYVGKRSNRVVRTLQNTPSLHSRHWGAPQQREGRQQQHHEELSATPTPLGLQETIAEFLYIARPLLHLLSLGLWGQ
RSWKPWLLAGVVDVTSLSLLSDRKGLTRRERRELRRWTILLLYYLLRSPFYDRFSEARILFLLQLLADHVPGVGLVTTSQ
RAASPCLPARPHTQPWSPPAFLPGHP*

Gene Symbol:PEX16
Accession:NM_004813
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 277
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKLRLLGLRYQEYVTRHPAATAQLETAVRGFSYLLAGRFADSHELSELVYSASNLLVLLNDGILRKELRKKLPVSLSQQ
KLLTWLSVLECVEVFMEMGAAKVWGEVGRWLVIALVQLAKAVLRMLLLLWFKAGLQTSPPIVPLDRETQAQPPDGDHSPG
NHEQSYVGKRSNRVVRTLQNTPSLHSRHWGAPQQREGRQQQHHEELSATPTPLGLQETIAEFLYIARPLLHLLSLGLWGQ
RSWKPWLLAGVVDVTSLSLLSDRKGLTRRERRELRRWTILLLYYLLRSPFYDRFSEARILFLLQLLADHVPGVGLVTRPL
MDYLPTWQKIYFYSWG*

Gene Symbol:PEX16
Accession:XM_047427888
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEMGAAKVWGEVGRWLVIALVQLAKAVLRMLLLLWFKAGLQTSPPIVPLDRETQAQPPDGDHSPGNHEQSYVGKRSNRVV
RTLQNTPSLHSRHWGAPQQREGRQQQHHEELSATPTPLGLQETIAEFLYIARPLLHLLSLGLWGQRSWKPWLLAGVVDVT
SLSLLSDRKGLTRRERRELRRWTILLLYYLLRSPFYDRFSEARILFLLQLLADHVPGVGLVTRPLMDYLPTWQKIYFYSW
G*

Gene Symbol:PEX16
Accession:XM_047427886
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 236
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHWVLKSRVYSASNLLVLLNDGILRKELRKKLPVSLSQQKLLTWLSVLECVEVFMEMGAAKVWGEVGRWLVIALVQLAKA
VLRMLLLLWFKAGLQTSPPIVPLDRETQAQPPDGDHSPGNHEQSYVGKRSNRVVRTLQNTPSLHSRHWGAPQQREGRQQQ
HHEELSATPTPLGLQETIAEFLYIARPLLHLLSLGLWGQRSWKPWLLAGVVDVTSLSLLSDRKGLTRRERRELRRWTILL
LYYLLRSPFYDRFSEARILFLLQLLADHVPGVGLVTRPLMDYLPTWQKIYFYSWG*

Gene Symbol:PEX16
Accession:XM_047427887
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 236
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHWVLKSRVYSASNLLVLLNDGILRKELRKKLPVSLSQQKLLTWLSVLECVEVFMEMGAAKVWGEVGRWLVIALVQLAKA
VLRMLLLLWFKAGLQTSPPIVPLDRETQAQPPDGDHSPGNHEQSYVGKRSNRVVRTLQNTPSLHSRHWGAPQQREGRQQQ
HHEELSATPTPLGLQETIAEFLYIARPLLHLLSLGLWGQRSWKPWLLAGVVDVTSLSLLSDRKGLTRRERRELRRWTILL
LYYLLRSPFYDRFSEARILFLLQLLADHVPGVGLVTRPLMDYLPTWQKIYFYSWG*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002662962 CLINVAR
MedGen C1832200 CLINVAR
NCBI Gene PEX16 CLINVAR
OMIM 601539 CLINVAR
  603360 CLINVAR