RGD:9682370 Rat Genome Database

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Variant: RGD:9682370 -  Homo sapiens

RGD ID: 9682370
RS ID: rs587783551
ClinVar ID: CV169896
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DCX  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 110,644,511
GRCh38 X 111,401,283
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001356303.1:p.Tyr138His
NP_835366.1:p.Tyr138His
NP_000546.2:p.Tyr219His
NG_011750.1:g.15896T>C
More... 		02/08/2013 missense variant pathogenic Heterotopia
Disease Annotations     Click to see Annotation Detail View
Choristoma  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:DCX
Accession:NM_001369372
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF
DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEHTKNVNPNWSVNVKTSANMKAPQ
SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH
DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQLS
TPKSKQSPISTPTSPGSLRKHKVDLYLPLSLDDSDSLGDSM*

Gene Symbol:DCX
Accession:NM_001369373
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF
DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEHTKNVNPNWSVNVKTSANMKAPQ
SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH
DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGPVPASVLG*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF
DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEHTKNVNPNWSVNVKTSANMKAPQ
SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH
DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDGPVPA
SVLG*

Gene Symbol:DCX
Accession:NM_178151
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF
DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEHTKNVNPNWSVNVKTSANMKAPQ
SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH
DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQLS
TPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:DCX
Accession:NM_001195553
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF
DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEHTKNVNPNWSVNVKTSANMKAPQ
SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH
DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTS
SSQLSTPKSKQSPISTPTSPGSLRKHKVDLYLPLSLDDSDSLGDSM*

Gene Symbol:DCX
Accession:NM_000555
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLPLHSHCTEMQRLLPKLEMLTLGSSFCSLQGEFCQAMDSFTTVSHVGMCEETDASFNVFSPKFQFDRSHCQSLRFHQ
NMELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRS
FDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEHTKNVNPNWSVNVKTSANMKAP
QSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCL
HDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQL
STPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:DCX
Accession:NM_178152
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF
DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEHTKNVNPNWSVNVKTSANMKAPQ
SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH
DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTS
SSQLSTPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:DCX
Accession:NM_001369371
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF
DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEHTKNVNPNWSVNVKTSANMKAPQ
SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH
DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTS
SSQLSTPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:DCX
Accession:NM_001369374
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF
DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEHTKNVNPNWSVNVKTSANMKAPQ
SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH
DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGPVPASVLG*

Gene Symbol:DCX
Accession:NM_001369370
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF
DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEHTKNVNPNWSVNVKTSANMKAPQ
SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH
DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTS
SSQLSTPKSKQSPISTPTSPGSLRKHKVDLYLPLSLDDSDSLGDSM*

Gene Symbol:DCX
Accession:NM_178153
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF
DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEHTKNVNPNWSVNVKTSANMKAPQ
SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH
DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQLS
TPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:DCX
Accession:NM_001410715
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSF
DALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEHTKNVNPNWSVNVKTSANMKAPQ
SLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH
DFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDGPVPA
SVLG*
Variant Samples
Additional References at PubMed
PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000145845 CLINVAR
dbSNP (RS) rs587783551 CLINVAR
MedGen C0008519 CLINVAR
NCBI Gene DCX CLINVAR
OMIM 300121 CLINVAR
SNOMED CT 719446000 CLINVAR