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Variant : CV557520 (NM_014795.4(ZEB2):c.1975C>T (p.Leu659Phe)) Homo sapiens

Symbol: CV557520
Name: NM_014795.4(ZEB2):c.1975C>T (p.Leu659Phe)
Condition: Mowat-Wilson syndrome [RCV000689415]
Clinical Significance: uncertain significance
Last Evaluated: 02/16/2018
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.126180C>T
NC_000002.12:g.144399212G>A
NC_000002.11:g.145156779G>A
NP_055610.1:p.Leu659Phe
NM_014795.3:c.1975C>T
NM_001171653.2:c.1903C>T
NM_014795.4:c.1975C>T
NP_001165124.1:p.Leu635Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,399,212 - 144,399,212CLINVAR
GRCh372145,156,779 - 145,156,779CLINVAR
Cytogenetic Map22q22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13812386
Created: 2018-11-06
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.