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Variant : CV448706 (NM_014795.4(ZEB2):c.1309C>A (p.Gln437Lys)) Homo sapiens

Symbol: CV448706
Name: NM_014795.4(ZEB2):c.1309C>A (p.Gln437Lys)
Condition: Mowat-Wilson syndrome [RCV000528357]
Clinical Significance: uncertain significance
Last Evaluated: 03/29/2017
Review Status: 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.125514C>A
NC_000002.12:g.144399878G>T
NC_000002.11:g.145157445G>T
NP_055610.1:p.Gln437Lys
NM_001171653.2:c.1237C>A
NM_014795.4:c.1309C>A
NM_014795.3:c.1309C>A
NP_001165124.1:p.Gln413Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,399,878 - 144,399,878CLINVAR
GRCh372145,157,445 - 145,157,445CLINVAR
Cytogenetic Map22q22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13480046
Created: 2018-01-09
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.