Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV378820 (NM_178153.2(DCX):c.96C>T (p.Ser32=)) Homo sapiens

Symbol: CV378820
Name: NM_178153.2(DCX):c.96C>T (p.Ser32=)
Condition: History of neurodevelopmental disorder [RCV000720052]|Neurodevelopmental [RCV000720052]|not specified [RCV000433198]
Clinical Significance: likely benign
Last Evaluated: 03/22/2016
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.96C>T
NM_178153.2:c.96C>T
NG_011750.1:g.6876C>T
NC_000023.11:g.111410303G>A
NC_000023.10:g.110653531G>A
NM_178153.1:c.96C>T
NP_835365.1:p.Ser32=
NP_835366.1:p.Ser32=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,410,303 - 111,410,303CLINVAR
GRCh37X110,653,531 - 110,653,531CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12841789
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



NHLBI Logo

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