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Variant : CV427888 (NM_014795.4(ZEB2):c.1916T>C (p.Val639Ala)) Homo sapiens

Symbol: CV427888
Name: NM_014795.4(ZEB2):c.1916T>C (p.Val639Ala)
Condition: not specified [RCV000502193]
Clinical Significance: uncertain significance
Last Evaluated: 09/15/2016
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.126121T>C
NC_000002.12:g.144399271A>G
NC_000002.11:g.145156838A>G
NP_055610.1:p.Val639Ala
NM_014795.4:c.1916T>C
NM_014795.3:c.1916T>C
NP_001165124.1:p.Val615Ala
NM_001171653.2:c.1844T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,399,271 - 144,399,271CLINVAR
GRCh372145,156,838 - 145,156,838CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13215192
Created: 2017-09-12
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.