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Variant : CV168022 (NM_014795.4(ZEB2):c.3141G>C (p.Arg1047Ser)) Homo sapiens

Symbol: CV168022
Name: NM_014795.4(ZEB2):c.3141G>C (p.Arg1047Ser)
Condition: Mowat-Wilson syndrome [RCV000148000]
Clinical Significance: uncertain significance
Last Evaluated: 06/16/2014
Review Status: classified by single submitter|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.135437G>C
NC_000002.12:g.144389955C>G
NC_000002.11:g.145147522C>G
NP_055610.1:p.Arg1047Ser
NM_014795.3:c.3141G>C
NP_001165124.1:p.Arg1023Ser
NM_001171653.2:c.3069G>C
NM_014795.4:c.3141G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,389,955 - 144,389,955CLINVAR
GRCh372145,147,522 - 145,147,522CLINVAR
Cytogenetic Map22q22.3CLINVAR
Age Of Onset: antenatal|neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9684231
Created: 2014-12-09
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.