RGD:13592708 Rat Genome Database

Variant: RGD:13592708 - Homo sapiens

RGD ID:

13592708

RS ID:

rs1556405057

ClinVar ID:

CV513388

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DCX

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	110,653,339
GRCh38	X	111,410,111

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_000555.3:c.531C>A NP_001356303.1:p.Asn96Lys NM_001369372.1:c.288C>A NM_001369373.1:c.288C>A More...	05/03/2020	missense variant	pathogenic\|likely pathogenic	Alpha-l-fucosidase deficiency; Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues

Disease Annotations Click to see Annotation Detail View

fucosidosis (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	DCX
Accession:	NM_001369372
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNIKLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQLS TPKSKQSPISTPTSPGSLRKHKVDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_001369374
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNIKLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGPVPASVLG*

Gene Symbol:	DCX
Accession:	NM_178152
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNIKLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTS SSQLSTPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_178151
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNIKLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQLS TPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_000555
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	177

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKTLPLHSHCTEMQRLLPKLEMLTLGSSFCSLQGEFCQAMDSFTTVSHVGMCEETDASFNVFSPKFQFDRSHCQSLRFHQ NMELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRS FDALLADLTRSLSDNIKLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAP QSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCL HDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQL STPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_001369371
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNIKLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTS SSQLSTPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_001369370
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNIKLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTS SSQLSTPKSKQSPISTPTSPGSLRKHKVDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_001410715
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNIKLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDGPVPA SVLG*

Gene Symbol:	DCX
Accession:	NM_178153
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNIKLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQLS TPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNIKLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDGPVPA SVLG*

Gene Symbol:	DCX
Accession:	NM_001195553
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNIKLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTS SSQLSTPKSKQSPISTPTSPGSLRKHKVDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_001369373
Location:	EXON
Amino Acid Prediction:	N to K (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNIKLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGPVPASVLG*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000625954	CLINVAR
dbSNP (RS)	rs1556405057	CLINVAR
MedGen	C0016788	CLINVAR
NCBI Gene	DCX	CLINVAR
OMIM	230000	CLINVAR
	300121	CLINVAR
SNOMED CT	64716005	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:13592708 - Homo sapiens

Imported Disease Annotations - ClinVar