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Variant : CV157372 (GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3) Homo sapiens

Symbol: CV157372
Name: GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3
Condition: See cases [RCV000136785]
Clinical Significance: pathogenic
Last Evaluated: 01/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACO2   CCDC134   CENPM   CSDC2   CYP2D6   CYP2D7   DESI1   LINC00634   LINC01315   MEI1   MIR33A   MIR378I   NAGA   NDUFA6   NDUFA6-DT   NFAM1   PHETA2   PHF5A   PMM1   POLR3H   RANGAP1   SEPTIN3   SHISA8   SMDT1   SNU13   SREBF2   SREBF2-AS1   TCF20   TEF   TNFRSF13C   TOB2   WBP2NL   XRCC6   ZC3H7B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_41277822)_(42414957_?)dup
NC_000022.10:g.(?_41673826)_(42810963_?)dup
NC_000022.9:g.(?_40003772)_(41140907_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382241,277,822 - 42,414,957CLINVAR
GRCh372241,673,826 - 42,810,963CLINVAR
Build 362240,003,772 - 41,140,907CLINVAR
Cytogenetic Map2222q13.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484346
Created: 2014-09-09
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.