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Variant : CV368361 (NM_014423.4(AFF4):c.1592G>A (p.Arg531Gln)) Homo sapiens

Symbol: CV368361
Name: NM_014423.4(AFF4):c.1592G>A (p.Arg531Gln)
Condition: not specified [RCV000417901]
Clinical Significance: uncertain significance
Last Evaluated: 08/02/2016
Review Status: criteria provided, single submitter
Related Genes: AFF4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_030340.1:g.71625G>A
NC_000005.10:g.132897038C>T
NC_000005.9:g.132232730C>T
NP_055238.1:p.Arg531Gln
NM_014423.4:c.1592G>A
NM_014423.3:c.1592G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh385132,897,038 - 132,897,038CLINVAR
GRCh375132,232,730 - 132,232,730CLINVAR
Cytogenetic Map55q31.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12833114
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.