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Variant : CV170825 (GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3) Homo sapiens

Symbol: CV170825
Name: GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3
Condition: See cases [RCV000148204]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADM2   CHKB   CHKB-CPT1B   CHKB-DT   CPT1B   KLHDC7B   KLHDC7B-DT   LMF2   LOC108281149   MIOX   MIR12114   NCAPH2   ODF3B   PPP6R2   SBF1   SCO2   SYCE3   TYMP  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_50368887)_(50599372_?)dup
NC_000022.10:g.(?_50807316)_(51037801_?)dup
NC_000022.9:g.(?_49154182)_(49384667_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382250,368,887 - 50,599,372CLINVAR
GRCh372250,807,316 - 51,037,801CLINVAR
Build 362249,154,182 - 49,384,667CLINVAR
Cytogenetic Map2222q13.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9684753
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2020-09-22
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.