Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV154680 (GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1) Homo sapiens

Symbol: CV154680
Name: GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1
Condition: See cases [RCV000134333]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB5   C7orf31   CBX3   CCDC126   CDCA7L   CYCS   DNAH11   EVX1   EVX1-AS   FAM126A   FAM221A   GPNMB   GSDME   HIBADH   HNRNPA2B1   HOTAIRM1   HOTTIP   HOXA-AS2   HOXA-AS3   HOXA1   HOXA10   HOXA10-AS   HOXA11   HOXA11-AS   HOXA13   HOXA2   HOXA3   HOXA4   HOXA5   HOXA6   HOXA7   HOXA9   IGF2BP3   IL6   IL6-AS1   ITGB8   JAZF1   KIAA0087   KLHL7   KLHL7-DT   LINC01162   LINC02860   MACC1   MALSU1   MIR1183   MIR148A   MIR196B   MPP6   NFE2L3   NPVF   NPY   NUP42   OSBPL3   RAPGEF5   SKAP2   SNHG26   SNORD65C   SNORD93   SNX10   SP4   SP8   STEAP1B   STK31   TAX1BP1   TOMM7   TRA2A  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_20210912)_(27849400_?)del
Human AssemblyChrPosition (strand)Source
GRCh38720,210,912 - 27,849,400CLINVAR
GRCh37720,250,535 - 27,889,019CLINVAR
Build 36720,217,060 - 27,855,544CLINVAR
Cytogenetic Map77p21.1-15.2CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 9481913
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


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