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Variant : CV243988 (NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His)) Homo sapiens

Symbol: CV243988
Name: NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His)
Condition: Global developmental delay [RCV000491693]|Global developmental delay [RCV001200922]
Clinical Significance: likely pathogenic|likely benign
Last Evaluated: 01/10/2016
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: KDM2B  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|research
HGVS Name(s): NG_033820.1:g.143625G>A
NC_000012.12:g.121442391C>T
NC_000012.11:g.121880194C>T
NP_115979.3:p.Arg1017His
NM_001005366.2:c.2843G>A
NM_032590.5:c.3050G>A
NM_032590.4:c.3050G>A
NP_001005366.1:p.Arg948His
Position
Human AssemblyChrPosition (strand)Source
GRCh3812121,442,391 - 121,442,391CLINVAR
GRCh3712121,880,194 - 121,880,194CLINVAR
Cytogenetic Map1212q24.31CLINVAR
Trait Synonyms: Abnormally small cranium; Abnormally small head; Abnormally small skull; Cognitive delay; Decreased circumference of cranium; Decreased size of cranium; Decreased size of head; Decreased size of skull; Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay in early childhood; Developmental retardation; Infantile spasms; Lack of psychomotor development; Mental and motor retardation; Microcephaly; Motor and developmental delay; Muscle hypotonia; Muscular hypotonia; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Reduced head circumference; Retarded development; Retarded mental development; Retarded psychomotor development; small calvarium; small cranium; Small head; Small head circumference; Small skull



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12911472
Created: 2017-07-11
Species: Homo sapiens
Last Modified: 2020-11-10
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.