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Variant : CV365390 (NM_014795.4(ZEB2):c.396T>C (p.Asn132=)) Homo sapiens

Symbol: CV365390
Name: NM_014795.4(ZEB2):c.396T>C (p.Asn132=)
Condition: not specified [RCV000424104]
Clinical Significance: likely benign
Last Evaluated: 11/22/2016
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): NG_016431.1:g.100589T>C
NC_000002.12:g.144424803A>G
NC_000002.11:g.145182370A>G
NP_055610.1:p.Asn132=
NM_001171653.2:c.331+4966T>C
NM_014795.4:c.396T>C
NM_014795.3:c.396T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,424,803 - 144,424,803CLINVAR
GRCh372145,182,370 - 145,182,370CLINVAR
Cytogenetic Map22q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12836827
Created: 2017-04-11
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.