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Variant : CV428242 (NM_001813.2(CENPE):c.5137A>G (p.Ile1713Val)) Homo sapiens

Symbol: CV428242
Name: NM_001813.2(CENPE):c.5137A>G (p.Ile1713Val)
Condition: not specified [RCV000503136]
Clinical Significance: uncertain significance
Last Evaluated: 12/27/2016
Review Status: criteria provided, single submitter
Related Genes: CENPE  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001813.2:c.5137A>G
NG_041798.1:g.59071A>G
NC_000004.12:g.103144339T>C
NC_000004.11:g.104065496T>C
NP_001804.2:p.Ile1713Val
Position
Human AssemblyChrPosition (strand)Source
GRCh384103,144,339 - 103,144,339CLINVAR
GRCh374104,065,496 - 104,065,496CLINVAR
Cytogenetic Map44q24CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13215988
Created: 2017-09-12
Species: Homo sapiens
Last Modified: 2019-08-06
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.