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Variant : CV248139 (GRCh37/hg19 1p34.1(chr1:46104013-46598046)x3) Homo sapiens

Symbol: CV248139
Name: GRCh37/hg19 1p34.1(chr1:46104013-46598046)x3
Condition: See cases [RCV000240509]
Clinical Significance: uncertain significance
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: GPBP1L1   IPP   MAST2   PIK3R3   TMEM69  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37146,104,013 - 46,598,046CLINVAR
Cytogenetic Map11p34.1CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11541896
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE


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