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Variant : CV155396 (GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1) Homo sapiens

Symbol: CV155396
Name: GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1
Condition: See cases [RCV000134973]
Clinical Significance: pathogenic
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCA13   ADCY1   C7orf57   C7orf65   C7orf69   CCM2   CDC14C   COBL   DDC   DDC-AS1   DDX56   FIGNL1   GRB10   H2AZ2   HUS1   IGFBP1   IGFBP3   IKZF1   LINC00525   LINC01446   LINC01447   LINC01952   LINC02838   MIR4657   MYO1G   NACAD   OGDH   PKD1L1   POM121L12   PPIA   PURB   RAMP3   SNHG15   SNORA5A   SNORA5B   SNORA5C   SNORA9   SNORD151   SPATA48   SUN3   TBRG4   TMED4   TNS3   UPP1   VWC2   ZMIZ2   ZPBP  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_44571949)_(53699760_?)del
NC_000007.13:g.(?_44611548)_(53767453_?)del
NC_000007.12:g.(?_44578073)_(53734947_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38744,571,949 - 53,699,760CLINVAR
GRCh37744,611,548 - 53,767,453CLINVAR
Build 36744,578,073 - 53,734,947CLINVAR
Cytogenetic Map77p13-12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482546
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.