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Variant : CV427885 (NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala)) Homo sapiens

Symbol: CV427885
Name: NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala)
Condition: Mowat-Wilson syndrome [RCV000556686]|not specified [RCV000503717]
Clinical Significance: uncertain significance
Last Evaluated: 09/06/2017
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.126702A>G
NC_000002.12:g.144398690T>C
NC_000002.11:g.145156257T>C
NP_055610.1:p.Thr833Ala
NM_001171653.2:c.2425A>G
NM_014795.4:c.2497A>G
NM_014795.3:c.2497A>G
NP_001165124.1:p.Thr809Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,398,690 - 144,398,690CLINVAR
GRCh372145,156,257 - 145,156,257CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13216400
Created: 2017-09-12
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.