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Variant : CV486379 (NM_014423.4(AFF4):c.2491C>T (p.Arg831Trp)) Homo sapiens

Symbol: CV486379
Name: NM_014423.4(AFF4):c.2491C>T (p.Arg831Trp)
Condition: not provided [RCV000585403]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
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.76353C>T
NP_055238.1:p.Arg831Trp
NC_000005.10:g.132892310G>A
NC_000005.9:g.132228002G>A
NM_014423.4:c.2491C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh385132,892,310 - 132,892,310CLINVAR
GRCh375132,228,002 - 132,228,002CLINVAR
Cytogenetic Map55q31.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13519136
Created: 2018-04-10
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.