RGD:9682383 Rat Genome Database

Variant: RGD:9682383 - Homo sapiens

RGD ID:

9682383

RS ID:

rs587783562

ClinVar ID:

CV169883

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DCX

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	110,644,367
GRCh38	X	111,401,139

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
NG_011750.1:g.16040C>T NC_000023.11:g.111401139G>A NC_000023.10:g.110644367G>A NP_835365.1:p.Arg186Cys More...	03/30/2022	missense variant	pathogenic\|likely pathogenic	Heterotopia; none provided

Disease Annotations Click to see Annotation Detail View

Choristoma (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Gray matter heterotopia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIICSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDGPVPA SVLG*

Gene Symbol:	DCX
Accession:	NM_001369372
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIICSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQLS TPKSKQSPISTPTSPGSLRKHKVDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_001369374
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIICSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGPVPASVLG*

Gene Symbol:	DCX
Accession:	NM_001369373
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIICSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGPVPASVLG*

Gene Symbol:	DCX
Accession:	NM_001369371
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIICSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTS SSQLSTPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_178153
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIICSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQLS TPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_000555
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	267

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKTLPLHSHCTEMQRLLPKLEMLTLGSSFCSLQGEFCQAMDSFTTVSHVGMCEETDASFNVFSPKFQFDRSHCQSLRFHQ NMELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRS FDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAP QSLASSNSAQARENKDFVRPKLVTIICSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCL HDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQL STPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_001195553
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIICSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTS SSQLSTPKSKQSPISTPTSPGSLRKHKVDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_178152
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIICSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTS SSQLSTPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_178151
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIICSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQLS TPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_001369370
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIICSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTS SSQLSTPKSKQSPISTPTSPGSLRKHKVDLYLPLSLDDSDSLGDSM*

Gene Symbol:	DCX
Accession:	NM_001410715
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQ SLASSNSAQARENKDFVRPKLVTIICSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDGPVPA SVLG*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:9618162	PMID:9668176	PMID:10369164	PMID:11175293	PMID:18414213	PMID:28492532	PMID:31481326

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000145858	CLINVAR
	RCV000489803	CLINVAR
dbSNP (RS)	rs587783562	CLINVAR
MedGen	C0008519	CLINVAR
	C3661900	CLINVAR
NCBI Gene	DCX	CLINVAR
OMIM	300121	CLINVAR
SNOMED CT	719446000	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)

Variant: RGD:9682383 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:9682383 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar