RGD:9682357 Rat Genome Database

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Variant: RGD:9682357 -  Homo sapiens

RGD ID: 9682357
RS ID: rs587783539
ClinVar ID: CV169936
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DCX  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 110,653,625
GRCh38 X 111,410,397
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011750.1:g.6782T>C
NC_000023.11:g.111410397A>G
NC_000023.10:g.110653625A>G
NP_835365.1:p.Met1Thr
More... 		02/08/2013 initiatior codon variant|initiator_codon_variant|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_178152
Location:EXON

Gene Symbol:DCX
Accession:NM_178151
Location:EXON

Gene Symbol:DCX
Accession:NM_001369372
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:DCX
Accession:NM_001369370
Location:EXON

Gene Symbol:DCX
Accession:NM_001369374
Location:EXON

Gene Symbol:DCX
Accession:NM_178153
Location:EXON

Gene Symbol:DCX
Accession:NM_001369373
Location:EXON

Gene Symbol:DCX
Accession:NM_001369371
Location:EXON

Gene Symbol:DCX
Accession:NM_001195553
Location:EXON

Gene Symbol:DCX
Accession:NM_000555
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLPLHSHCTEMQRLLPKLEMLTLGSSFCSLQGEFCQAMDSFTTVSHVGMCEETDASFNVFSPKFQFDRSHCQSLRFHQ
NTELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRS
FDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAP
QSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCL
HDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQL
STPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM*

Gene Symbol:DCX
Accession:NM_001410715
Location:EXON

Variant Samples
Additional References at PubMed
PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000145831 CLINVAR
dbSNP (RS) rs587783539 CLINVAR
MedGen C0008519 CLINVAR
NCBI Gene DCX CLINVAR
OMIM 300121 CLINVAR
SNOMED CT 719446000 CLINVAR