RGD:9693185 Rat Genome Database

Variant: RGD:9693185 - Homo sapiens

RGD ID:

9693185

RS ID:

rs201120958

ClinVar ID:

CV177055

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PEX14

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	10,689,923
GRCh38	1	10,629,866

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
NC_000001.11:g.10629866A>G NC_000001.10:g.10689923A>G NM_004565.3:c.1013A>G NG_008340.2:g.159921A>G More...	09/30/2022	missense variant	likely benign\|uncertain significance	none provided; Peroxisome biogenesis disorder 13A

Disease Annotations Click to see Annotation Detail View

peroxisome biogenesis disorder 13A (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PEX14
Accession:	XM_011541578
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	319

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

Gene Symbol:	PEX14
Accession:	XM_011541580
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	295

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

Gene Symbol:	PEX14
Accession:	XM_011541579
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	309

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

Gene Symbol:	PEX14
Accession:	XM_047422543
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	319

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

Gene Symbol:	PEX14
Accession:	XM_011541577
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	352

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

Gene Symbol:	PEX14
Accession:	XM_047422545
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	274

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

Gene Symbol:	PEX14
Accession:	NM_004565
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	338

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

Gene Symbol:	PEX14
Accession:	XM_047422546
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	321

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

Gene Symbol:	PEX14
Accession:	XM_047422544
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	364

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

Gene Symbol:	PEX14
Accession:	XM_047422542
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	319

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000153679	CLINVAR
	RCV002478446	CLINVAR
	RCV003937429	CLINVAR
dbSNP (RS)	rs201120958	CLINVAR
MedGen	C3554004	CLINVAR
	C3661900	CLINVAR
NCBI Gene	PEX14	CLINVAR
OMIM	601791	CLINVAR
	614887	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:9693185 - Homo sapiens

Imported Disease Annotations - ClinVar