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Variant : CV177065 (NM_014795.4(ZEB2):c.2206A>G (p.Met736Val)) Homo sapiens

Symbol: CV177065
Name: NM_014795.4(ZEB2):c.2206A>G (p.Met736Val)
Condition: Mowat-Wilson syndrome [RCV000159452]|not specified [RCV000154152]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 03/22/2017
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|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.126411A>G
NC_000002.12:g.144398981T>C
NC_000002.11:g.145156548T>C
NP_055610.1:p.Met736Val
NM_014795.2:c.2206A>G
NM_014795.3:c.2206A>G
NP_055610.1:p.Met736Val
NP_055610.1:p.Met736Val
NM_001171653.2:c.2134A>G
NM_014795.4:c.2206A>G
NP_001165124.1:p.Met712Val
NP_055610.1:p.Met736Val
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,398,981 - 144,398,981CLINVAR
GRCh372145,156,548 - 145,156,548CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9688409
Created: 2015-02-10
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.