RGD:13834121 Rat Genome Database

Variant: RGD:13834121 - Homo sapiens

RGD ID:

13834121

RS ID:

rs146053705

ClinVar ID:

CV585363

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PEX14

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	10,690,011
GRCh38	1	10,629,954

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_004565.3:c.1101C>T NG_008340.2:g.160009C>T NC_000001.11:g.10629954C>T NC_000001.10:g.10690011C>T More...	10/25/2020	synonymous variant	likely benign\|uncertain significance	none provided

Disease Annotations Click to see Annotation Detail View

Peroxisome Biogenesis Disorder, Complementation Group K (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PEX14
Accession:	XM_047422542
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	348

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLNKLICLMIATAVKFLQNSRVRQSPLATRRAFLKKKGLTDEEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPY SPAGSRWRDYGALAIIMAGIAFGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQ QQQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPSWQIPVKSPSPSSPAAVNHH SSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDE EDCLGVQREDRRGGDGQINEQVEKLRRPEGASNESERD*

Gene Symbol:	PEX14
Accession:	XM_047422543
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	348

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLNKLICLMIATAVKFLQNSRVRQSPLATRRAFLKKKGLTDEEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPY SPAGSRWRDYGALAIIMAGIAFGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQ QQQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPSWQIPVKSPSPSSPAAVNHH SSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDE EDCLGVQREDRRGGDGQINEQVEKLRRPEGASNESERD*

Gene Symbol:	PEX14
Accession:	XM_047422546
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	350

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASSEQAEQPSQVRGVGLPRCAAETPAGGGAQHTAGSRPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLK KKGPAGSRWRDYGALAIIMAGIAFGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELL IQQQQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPSWQIPVKSPSPSSPAAVN HHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHV DEEDCLGVQREDRRGGDGQINEQVEKLRRPEGASNESERD*

Gene Symbol:	PEX14
Accession:	XM_047422545
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIAFGFHQLYKKYLLPLILGGREDRKQ LERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQQQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLL NRRQFPPSPSAPKIPSWQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGEGVVD VKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQVEKLRRPEGASNESERD*

Gene Symbol:	PEX14
Accession:	XM_011541578
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	348

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLNKLICLMIATAVKFLQNSRVRQSPLATRRAFLKKKGLTDEEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPY SPAGSRWRDYGALAIIMAGIAFGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQ QQQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPSWQIPVKSPSPSSPAAVNHH SSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDE EDCLGVQREDRRGGDGQINEQVEKLRRPEGASNESERD*

Gene Symbol:	PEX14
Accession:	XM_011541580
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	324

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGPAGSRWRDYGALAIIMAGIAFGF HQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQQQKIQELAHELAAAKATTSTNWI LESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPSWQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSP EGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQVEK LRRPEGASNESERD*

Gene Symbol:	PEX14
Accession:	XM_011541579
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	338

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDTRRWGSWGHLRVCSPQDSFSFWATPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGPAGSRWRDY GALAIIMAGIAFGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQQQKIQELAH ELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPSWQIPVKSPSPSSPAAVNHHSSSDISPVSN ESTSSSPGKEGHSPEGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQRED RRGGDGQINEQVEKLRRPEGASNESERD*

Gene Symbol:	PEX14
Accession:	NM_004565
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	367

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTDEEIDMAFQQSGTAADEPSSL GPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIAFGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVA QTVTQLQTTLASVQELLIQQQQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPS WQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQGEEEKR EDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQVEKLRRPEGASNESERD*

Gene Symbol:	PEX14
Accession:	XM_011541577
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	381

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDTRRWGSWGHLRVCSPQDSFSFWATPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTDEEIDMA FQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIAFGFHQLYKKYLLPLILGGREDRKQLE RMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQQQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNR RQFPPSPSAPKIPSWQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGEGVVDVK GQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQVEKLRRPEGASNESERD*

Gene Symbol:	PEX14
Accession:	XM_047422544
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	393

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASSEQAEQPSQVRGVGLPRCAAETPAGGGAQHTAGSRPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLK KKGLTDEEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIAFGFHQLYKKYLLPL ILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQQQKIQELAHELAAAKATTSTNWILESQNINELKS EINSLKGLLLNRRQFPPSPSAPKIPSWQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLG PQEEGEGVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQVEKLRRPEGASNES ERD*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000729559	CLINVAR
	RCV001415800	CLINVAR
	RCV003892616	CLINVAR
dbSNP (RS)	rs146053705	CLINVAR
MedGen	C1866257	CLINVAR
	C3661900	CLINVAR
NCBI Gene	PEX14	CLINVAR
OMIM	601791	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:13834121 - Homo sapiens

Imported Disease Annotations - ClinVar