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Variant : CV513555 (NM_014423.4(AFF4):c.1268_1270dup (p.Ser424_Arg425insTyr)) Homo sapiens

Symbol: CV513555
Name: NM_014423.4(AFF4):c.1268_1270dup (p.Ser424_Arg425insTyr)
Condition: Chops syndrome [RCV000626266]
Clinical Significance: uncertain significance
Last Evaluated: 12/18/2017
Review Status: criteria provided, single submitter
Related Genes: AFF4  
Variant Type: duplication (SO:0001821)
Source: CLINVAR
Molecular Consequence: inframe_insertion
Evidence: clinical testing
HGVS Name(s): NM_014423.4:c.1268_1270dup
NG_030340.1:g.70312_70314dup
NC_000005.9:g.132234041_132234043dup
NM_014423.3:c.1270_1271insACT
NP_055238.1:p.Ser424_Arg425insTyr
NC_000005.10:g.132898349_132898351dup
Position
Human AssemblyChrPosition (strand)Source
GRCh385132,898,348 - 132,898,349CLINVAR
GRCh375132,234,040 - 132,234,041CLINVAR
Cytogenetic Map55q31.1CLINVAR
Trait Synonyms: COGNITIVE IMPAIRMENT, COARSE FACIES, HEART DEFECTS, OBESITY, PULMONARY INVOLVEMENT, SHORT STATURE, AND SKELETAL DYSPLASIA



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13529246
Created: 2018-05-08
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.