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Variant : CV383664 (GRCh37/hg19 5p15.31-14.2(chr5:9120813-24274030)x1) Homo sapiens

Symbol: CV383664
Name: GRCh37/hg19 5p15.31-14.2(chr5:9120813-24274030)x1
Condition: See cases [RCV000448421]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ANKH   ANKRD33B   ATPSCKMT   BASP1   C5orf17   CCT5   CDH12   CDH18   CMBL   CTNND2   DAP   DNAH5   FBXL7   LINC01194   MARCHF11   MARCHF6   MYO10   OTULIN   OTULINL   PRDM9   RETREG1   ROPN1L   SEMA5A   TAS2R1   TRIO   ZNF622  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3759,120,813 - 24,274,030CLINVAR
Cytogenetic Map55p15.31-14.2CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12853129
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


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