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Variant : CV158883 (GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1) Homo sapiens

Symbol: CV158883
Name: GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1
Condition: See cases [RCV000138190]
Clinical Significance: pathogenic
Last Evaluated: 03/09/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AMPH   ANLN   AOAH   AOAH-IT1   CDK13   EEPD1   ELMO1   ELMO1-AS1   EPDR1   GLI3   GPR141   HERPUD2   INHBA   INHBA-AS1   KIAA0895   LINC00265   LINC01449   LINC01450   MIR1200   MPLKIP   NME8   POU6F2   POU6F2-AS1   POU6F2-AS2   RALA   SEPTIN7   SEPTIN7-DT   SFRP4   SNORA20B   STARD3NL   SUGCT   TARP   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.(?_35460776)_(42013800_?)del
NC_000007.12:g.(?_35466911)_(42019924_?)del
NC_000007.13:g.(?_35500386)_(42053399_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38735,460,776 - 42,013,800CLINVAR
GRCh37735,500,386 - 42,053,399CLINVAR
Build 36735,466,911 - 42,019,924CLINVAR
Cytogenetic Map77p14.2-14.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485739
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.