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Variant : CV448717 (NM_014795.4(ZEB2):c.1221C>T (p.His407=)) Homo sapiens

Symbol: CV448717
Name: NM_014795.4(ZEB2):c.1221C>T (p.His407=)
Condition: History of neurodevelopmental disorder [RCV000720779]|Mowat-Wilson syndrome [RCV000547652]|Neurodevelopmental [RCV000720779]
Clinical Significance: likely benign
Last Evaluated: 09/12/2017
Review Status: criteria provided, single submitter
Related Genes: ZEB2  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001171653.2:c.1149C>T
NM_014795.4:c.1221C>T
NM_014795.3:c.1221C>T
NP_001165124.1:p.His383=
NG_016431.1:g.125426C>T
NC_000002.12:g.144399966G>A
NC_000002.11:g.145157533G>A
NP_055610.1:p.His407=
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,399,966 - 144,399,966CLINVAR
GRCh372145,157,533 - 145,157,533CLINVAR
Cytogenetic Map22q22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13473071
Created: 2018-01-09
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.