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Variant : CV448695 (NM_014795.4(ZEB2):c.2951C>T (p.Ser984Phe)) Homo sapiens

Symbol: CV448695
Name: NM_014795.4(ZEB2):c.2951C>T (p.Ser984Phe)
Condition: Mowat-Wilson syndrome [RCV000527181]
Clinical Significance: uncertain significance
Last Evaluated: 04/28/2017
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.128864C>T
NC_000002.12:g.144396528G>A
NP_055610.1:p.Ser984Phe
NC_000002.11:g.145154095G>A
NM_001171653.2:c.2879C>T
NM_014795.4:c.2951C>T
NM_014795.3:c.2951C>T
NP_001165124.1:p.Ser960Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,396,528 - 144,396,528CLINVAR
GRCh372145,154,095 - 145,154,095CLINVAR
Cytogenetic Map22q22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13477488
Created: 2018-01-09
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.