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Variant : CV188156 (NM_014423.4(AFF4):c.760A>G (p.Thr254Ala)) Homo sapiens

Symbol: CV188156
Name: NM_014423.4(AFF4):c.760A>G (p.Thr254Ala)
Condition: CHOPS SYNDROME [RCV000170515]|Chops syndrome [RCV000170515]
Clinical Significance: pathogenic
Last Evaluated: 05/15/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AFF4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NG_030340.1:g.34358A>G
NC_000005.10:g.132934305T>C
NC_000005.9:g.132269997T>C
NP_055238.1:p.Thr254Ala
Q9UHB7:p.Thr254Ala
NM_014423.4:c.760A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh385132,934,305 - 132,934,305CLINVAR
GRCh375132,269,997 - 132,269,997CLINVAR
Cytogenetic Map55q31.1CLINVAR
Trait Synonyms: COGNITIVE IMPAIRMENT, COARSE FACIES, HEART DEFECTS, OBESITY, PULMONARY INVOLVEMENT, SHORT STATURE, AND SKELETAL DYSPLASIA
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10044828
Created: 2015-06-09
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.