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Variant : CV580743 (NM_178153.2(DCX):c.774C>T (p.Arg258=)) Homo sapiens

Symbol: CV580743
Name: NM_178153.2(DCX):c.774C>T (p.Arg258=)
Condition: History of neurodevelopmental disorder [RCV000718334]|Neurodevelopmental [RCV000718334]
Clinical Significance: likely benign
Last Evaluated: 03/10/2017
Review Status: criteria provided, single submitter
Related Genes: DCX  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_178152.2:c.774C>T
NM_178153.2:c.774C>T
NG_011750.1:g.84094C>T
NC_000023.11:g.111333085G>A
NC_000023.10:g.110576313G>A
NP_835365.1:p.Arg258=
NP_835366.1:p.Arg258=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,333,085 - 111,333,085CLINVAR
GRCh37X110,576,313 - 110,576,313CLINVAR
Cytogenetic MapXXq23CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13829519
Created: 2018-12-06
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.