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Variant : CV498911 (NM_014795.4(ZEB2):c.2300C>T (p.Thr767Ile)) Homo sapiens

Symbol: CV498911
Name: NM_014795.4(ZEB2):c.2300C>T (p.Thr767Ile)
Condition: not specified [RCV000615216]
Clinical Significance: likely benign
Last Evaluated: 11/22/2017
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): NG_016431.1:g.126505C>T
NC_000002.12:g.144398887G>A
NC_000002.11:g.145156454G>A
NP_055610.1:p.Thr767Ile
NM_001171653.2:c.2228C>T
NM_014795.4:c.2300C>T
NM_014795.3:c.2300C>T
NP_001165124.1:p.Thr743Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,398,887 - 144,398,887CLINVAR
GRCh372145,156,454 - 145,156,454CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13540800
Created: 2018-05-08
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.