RGD:9682407 Rat Genome Database

Variant: RGD:9682407 - Homo sapiens

RGD ID:

9682407

RS ID:

rs587783581

ClinVar ID:

CV169860

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DCX

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	110,644,235
GRCh38	X	111,401,007

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
NP_001356301.1:p.Thr230Pro NP_001356302.1:p.Thr230Pro NP_001356303.1:p.Thr230Pro NP_835366.1:p.Thr230Pro More...	02/08/2013	missense variant	likely pathogenic	Heterotopia

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:	DCX
Accession:	NM_001369370
Location:	EXON
Amino Acid Prediction:	T to P (nonsynonymous)
Amino Acid Position:	230

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

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	T to P (nonsynonymous)
Amino Acid Position:	230

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

Gene Symbol:	DCX
Accession:	NM_178151
Location:	EXON
Amino Acid Prediction:	T to P (nonsynonymous)
Amino Acid Position:	230

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

Gene Symbol:	DCX
Accession:	NM_001410715
Location:	EXON
Amino Acid Prediction:	T to P (nonsynonymous)
Amino Acid Position:	230

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

Gene Symbol:	DCX
Accession:	NM_001369374
Location:	EXON
Amino Acid Prediction:	T to P (nonsynonymous)
Amino Acid Position:	230

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

Gene Symbol:	DCX
Accession:	NM_001369372
Location:	EXON
Amino Acid Prediction:	T to P (nonsynonymous)
Amino Acid Position:	230

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

Gene Symbol:	DCX
Accession:	NM_001369373
Location:	EXON
Amino Acid Prediction:	T to P (nonsynonymous)
Amino Acid Position:	230

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

Gene Symbol:	DCX
Accession:	NM_001195553
Location:	EXON
Amino Acid Prediction:	T to P (nonsynonymous)
Amino Acid Position:	230

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

Gene Symbol:	DCX
Accession:	NM_000555
Location:	EXON
Amino Acid Prediction:	T to P (nonsynonymous)
Amino Acid Position:	311

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

Gene Symbol:	DCX
Accession:	NM_178153
Location:	EXON
Amino Acid Prediction:	T to P (nonsynonymous)
Amino Acid Position:	230

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

Gene Symbol:	DCX
Accession:	NM_178152
Location:	EXON
Amino Acid Prediction:	T to P (nonsynonymous)
Amino Acid Position:	230

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

Gene Symbol:	DCX
Accession:	NM_001369371
Location:	EXON
Amino Acid Prediction:	T to P (nonsynonymous)
Amino Acid Position:	230

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:18414213

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000145884	CLINVAR
dbSNP (RS)	rs587783581	CLINVAR
MedGen	C0008519	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:9682407 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:9682407 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar