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

Variant : CV365583 (NM_014795.4(ZEB2):c.225C>T (p.Ser75=)) Homo sapiens

Symbol: CV365583
Name: NM_014795.4(ZEB2):c.225C>T (p.Ser75=)
Condition: History of neurodevelopmental disorder [RCV000718034]|Neurodevelopmental [RCV000718034]|not specified [RCV000422496]
Clinical Significance: likely benign
Last Evaluated: 01/26/2017
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_014795.3:c.225C>T
NP_001165124.1:p.Ser75=
NG_016431.1:g.95517C>T
NC_000002.12:g.144429875G>A
NC_000002.11:g.145187442G>A
NP_055610.1:p.Ser75=
NM_001171653.2:c.225C>T
NM_014795.4:c.225C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,429,875 - 144,429,875CLINVAR
GRCh372145,187,442 - 145,187,442CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12835908
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

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