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Variant : CV359383 (NM_014795.4(ZEB2):c.430T>A (p.Phe144Ile)) Homo sapiens

Symbol: CV359383
Name: NM_014795.4(ZEB2):c.430T>A (p.Phe144Ile)
Condition: Mowat-Wilson syndrome [RCV000799160]|not specified [RCV000413249]
Clinical Significance: uncertain significance
Last Evaluated: 10/01/2018
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.120394T>A
NC_000002.12:g.144404998A>T
NC_000002.11:g.145162565A>T
NP_055610.1:p.Phe144Ile
NP_001165124.1:p.Phe120Ile
NM_001171653.2:c.358T>A
NM_014795.4:c.430T>A
NG_056148.1:g.603A>T
NM_014795.3:c.430T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,404,998 - 144,404,998CLINVAR
GRCh372145,162,565 - 145,162,565CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12740833
Created: 2017-02-07
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.