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Variant : CV159309 (GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4) Homo sapiens

Symbol: CV159309
Name: GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4
Condition: See cases [RCV000138555]
Clinical Significance: likely pathogenic
Last Evaluated: 09/27/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACTR3C   ARHGEF35   ARHGEF35-AS1   ARHGEF5   ATP6V0E2   ATP6V0E2-AS1   C7orf33   CNTNAP2   CNTNAP2-AS1   CTAGE4   CTAGE6   CTAGE8   CUL1   EZH2   GHET1   KRBA1   MIR548F4   NOBOX   OR2A1   OR2A1-AS1   OR2A12   OR2A14   OR2A2   OR2A25   OR2A42   OR2A5   OR2A7   OR2F1   OR2F2   OR6B1   PDIA4   RNY1   RNY3   RNY4   RNY5   TCAF1   TCAF2   TPK1   TRC-GCA1-1   TRC-GCA10-1   TRC-GCA11-1   TRC-GCA12-1   TRC-GCA13-1   TRC-GCA15-1   TRC-GCA16-1   TRC-GCA17-1   TRC-GCA18-1   TRC-GCA19-1   TRC-GCA20-1   TRC-GCA21-1   TRC-GCA22-1   TRC-GCA23-1   TRC-GCA3-1   TRC-GCA9-2   TRC-GCA9-3   TRC-GCA9-4   TRS-AGA5-1   ZNF212   ZNF282   ZNF398   ZNF425   ZNF467   ZNF746   ZNF777   ZNF783   ZNF786   ZNF862  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_143596735)_(150089125_?)dup
NC_000007.13:g.(?_143293828)_(149786214_?)dup
NC_000007.12:g.(?_143003950)_(149417147_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh387143,596,735 - 150,089,125CLINVAR
GRCh377143,293,828 - 149,786,214CLINVAR
Build 367143,003,950 - 149,417,147CLINVAR
Cytogenetic Map77q35-36.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486095
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.