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Variant : CV163951 (GRCh38/hg38 22q13.33(chr22:50485457-50759410)x1) Homo sapiens

Symbol: CV163951
Name: GRCh38/hg38 22q13.33(chr22:50485457-50759410)x1
Condition: See cases [RCV000142303]
Clinical Significance: pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC000036.1   ACR   ADM2   ARSA   CHKB   CHKB-CPT1B   CHKB-DT   CPT1B   KLHDC7B   KLHDC7B-DT   LMF2   MAPK8IP2   MIOX   NCAPH2   ODF3B   SCO2   SHANK3   SYCE3   TYMP  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_50485457)_(50759410_?)del
Human AssemblyChrPosition (strand)Source
GRCh382250,485,457 - 50,759,410CLINVAR
GRCh372250,923,886 - 51,197,838CLINVAR
Build 362249,270,752 - 49,544,704CLINVAR
Cytogenetic Map2222q13.33CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489822
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.