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Variant : CV141652 (NM_014795.4(ZEB2):c.2205T>C (p.Pro735=)) Homo sapiens

Symbol: CV141652
Name: NM_014795.4(ZEB2):c.2205T>C (p.Pro735=)
Condition: Mowat-Wilson syndrome [RCV000126369]|not specified [RCV000154153]
Clinical Significance: benign
Last Evaluated: 04/24/2014
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|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): NG_016431.1:g.126410T>C
NC_000002.12:g.144398982A>G
NC_000002.11:g.145156549A>G
NP_055610.1:p.Pro735=
NP_055610.1:p.(=)
NM_001171653.2:c.2133T>C
NM_014795.4:c.2205T>C
NM_014795.3:c.2205T>C
NP_055610.1:p.(=)
NP_001165124.1:p.Pro711=
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,398,982 - 144,398,982CLINVAR
GRCh372145,156,549 - 145,156,549CLINVAR
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: 8691685
Created: 2014-07-08
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.