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Variant : CV101530 (NM_014795.4(ZEB2):c.2887-4G>A) Homo sapiens

Symbol: CV101530
Name: NM_014795.4(ZEB2):c.2887-4G>A
Condition: AllHighlyPenetrant [RCV000081666]|History of neurodevelopmental disorder [RCV000715931]|Mowat-Wilson syndrome [RCV000126374]|Mowat-Wilson syndrome [RCV000226669]|Neurodevelopmental [RCV000715931]|not specified [RCV000081666]
Clinical Significance: benign
Last Evaluated: 01/02/2017
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|intron variant
Evidence: clinical testing
HGVS Name(s): NG_016431.1:g.128796G>A
NC_000002.12:g.144396596C>T
NC_000002.11:g.145154163C>T
NM_001171653.2:c.2815-4G>A
NM_014795.4:c.2887-4G>A
NM_014795.3:c.2887-4G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,396,596 - 144,396,596CLINVAR
GRCh372145,154,163 - 145,154,163CLINVAR
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: 8642546
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.