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Variant : CV156621 (GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3) Homo sapiens

Symbol: CV156621
Name: GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3
Condition: See cases [RCV000136106]
Clinical Significance: uncertain significance
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADM2   ARSA   CHKB   CHKB-CPT1B   CHKB-DT   CPT1B   DENND6B   HDAC10   KLHDC7B   KLHDC7B-DT   LMF2   MAPK11   MAPK12   MAPK8IP2   MIOX   MIR12114   MLC1   MOV10L1   NCAPH2   ODF3B   PANX2   PLXNB2   PPP6R2   SBF1   SCO2   SELENOO   SHANK3   SYCE3   TRABD   TTLL8   TUBGCP6   TYMP  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_50055303)_(50677724_?)dup
NC_000022.10:g.(?_50493732)_(51116152_?)dup
NC_000022.9:g.(?_48835859)_(49463018_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382250,055,303 - 50,677,724CLINVAR
GRCh372250,493,732 - 51,116,152CLINVAR
Build 362248,835,859 - 49,463,018CLINVAR
Cytogenetic Map2222q13.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9483668
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-07
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.