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Variant : CV74357 (GRCh38/hg38 22q13.1(chr22:38951259-39371142)x3) Homo sapiens

Symbol: CV74357
Name: GRCh38/hg38 22q13.1(chr22:38951259-39371142)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053628]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053628]|See cases [RCV000053628]
Clinical Significance: benign
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: APOBEC3A   APOBEC3B   APOBEC3B-AS1   APOBEC3C   APOBEC3D   APOBEC3F   APOBEC3G   APOBEC3H   CBX7   PDGFB   RPL3   SNORD139   SNORD43   SNORD83A   SNORD83B   SYNGR1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_38951259)_(39371142_?)dup
NC_000022.10:g.(?_39347264)_(39767147_?)dup
NC_000022.9:g.(?_37677210)_(38097093_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382238,951,259 - 39,371,142CLINVAR
GRCh372239,347,264 - 39,767,147CLINVAR
Build 362237,677,210 - 38,097,093CLINVAR
Cytogenetic Map2222q13.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620547
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.