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Variant : CV178999 (NM_014795.4(ZEB2):c.773G>A (p.Arg258Gln)) Homo sapiens

Symbol: CV178999
Name: NM_014795.4(ZEB2):c.773G>A (p.Arg258Gln)
Condition: Mowat-Wilson syndrome [RCV000159443]|not provided [RCV000179484]|not provided [RCV000724034]|not specified [RCV000159443]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 08/09/2016
Review Status: classified by single submitter|criteria provided, conflicting interpretations|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.121442G>A
NC_000002.12:g.144403950C>T
NC_000002.11:g.145161517C>T
NP_055610.1:p.Arg258Gln
NM_014795.2:c.773G>A
NM_001171653.2:c.701G>A
NM_014795.3:c.773G>A
NP_001165124.1:p.Arg234Gln
NM_014795.4:c.773G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,403,950 - 144,403,950CLINVAR
GRCh372145,161,517 - 145,161,517CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9833639
Created: 2015-03-10
Species: Homo sapiens
Last Modified: 2019-12-03
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.