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Variant : CV628448 (NM_014795.4(ZEB2):c.3308C>A (p.Pro1103His)) Homo sapiens

Symbol: CV628448
Name: NM_014795.4(ZEB2):c.3308C>A (p.Pro1103His)
Condition: Mowat-Wilson syndrome [RCV000823453]
Clinical Significance: uncertain significance
Last Evaluated: 12/26/2018
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): NM_001171653.2:c.3236C>A
NM_014795.4:c.3308C>A
NG_016431.1:g.135604C>A
NC_000002.12:g.144389788G>T
NC_000002.11:g.145147355G>T
NM_014795.3:c.3308C>A
NP_001165124.1:p.Pro1079His
NP_055610.1:p.Pro1103His
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,389,788 - 144,389,788CLINVAR
GRCh372145,147,355 - 145,147,355CLINVAR
Cytogenetic Map22q22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14743445
Created: 2019-09-06
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.