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Variant : CV101529 (NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met)) Homo sapiens

Symbol: CV101529
Name: NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met)
Condition: AllHighlyPenetrant [RCV000081665]|History of neurodevelopmental disorder [RCV000718218]|Mowat-Wilson syndrome [RCV000159455]|Mowat-Wilson syndrome [RCV000704416]|Neurodevelopmental [RCV000718218]|not provided [RCV000514666]|not specified [RCV000081665]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 04/06/2018
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.126460C>T
NC_000002.12:g.144398932G>A
NC_000002.11:g.145156499G>A
NP_055610.1:p.Thr752Met
NM_001171653.2:c.2183C>T
NM_014795.4:c.2255C>T
NM_014795.3:c.2255C>T
NP_001165124.1:p.Thr728Met
NP_055610.1:p.Thr752Met
NP_055610.1:p.Thr752Met
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,398,932 - 144,398,932CLINVAR
GRCh372145,156,499 - 145,156,499CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8642545
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.