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Variant : CV628461 (NM_014795.4(ZEB2):c.364C>T (p.Pro122Ser)) Homo sapiens

Symbol: CV628461
Name: NM_014795.4(ZEB2):c.364C>T (p.Pro122Ser)
Condition: Mowat-Wilson syndrome [RCV000799537]
Clinical Significance: uncertain significance
Last Evaluated: 11/08/2018
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001171653.2:c.331+4934C>T
NM_014795.4:c.364C>T
NG_016431.1:g.100557C>T
NC_000002.12:g.144424835G>A
NC_000002.11:g.145182402G>A
NM_014795.3:c.364C>T
NP_055610.1:p.Pro122Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,424,835 - 144,424,835CLINVAR
GRCh372145,182,402 - 145,182,402CLINVAR
Cytogenetic Map22q22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14727184
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.