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Variant : CV178967 (NM_014795.3(ZEB2):c.3086G>A (p.Cys1029Tyr)) Homo sapiens

Symbol: CV178967
Name: NM_014795.3(ZEB2):c.3086G>A (p.Cys1029Tyr)
Condition: Mowat-Wilson syndrome [RCV000159500]
Clinical Significance: likely pathogenic
Last Evaluated: 10/03/2014
Review Status: classified by single submitter|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): NM_014795.3:c.3086G>A
NG_016431.1:g.135382G>A
NC_000002.12:g.144390010C>T
NC_000002.11:g.145147577C>T
NP_055610.1:p.Cys1029Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,390,010 - 144,390,010CLINVAR
GRCh372145,147,577 - 145,147,577CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: Mowat-Wilson Syndrome: Autosomal dominant inheritence
Age Of Onset: antenatal|neonatal/infancy



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 9833691
Created: 2015-03-10
Species: Homo sapiens
Last Modified: 2017-04-04
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.