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Variant : CV161329 (GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1) Homo sapiens

Symbol: CV161329
Name: GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1
Condition: See cases [RCV000140283]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AMPH   ANLN   AOAH   AOAH-IT1   BBS9   BMPER   CDK13   DPY19L1   EEPD1   ELMO1   ELMO1-AS1   EPDR1   FKBP9   GPR141   HERPUD2   KBTBD2   KIAA0895   LINC00265   LINC00997   LINC01450   MIR1200   MIR548N   MIR550A2   MIR550B2   MPLKIP   NME8   NPSR1   NPSR1-AS1   NT5C3A   POU6F2   POU6F2-AS1   POU6F2-AS2   RALA   RP9   SEPTIN7   SEPTIN7-DT   SFRP4   SNORA20B   STARD3NL   SUGCT   TARP   TBX20   TRG   TRG-AS1   TRGC1   TRGC2   TRGJ1   TRGJ2   TRGJP   TRGJP1   TRGJP2   TRGV2   TRGV3   TRGV4   TRGV5   TRGV8   TRGV9   VPS41   YAE1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_32678391)_(41044983_?)del
NC_000007.13:g.(?_32718003)_(41084581_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38732,678,391 - 41,044,983CLINVAR
GRCh37732,718,003 - 41,084,581CLINVAR
Build 36732,684,528 - 41,051,106CLINVAR
Cytogenetic Map77p14.3-14.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9487813
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
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.