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Variant : CV158610 (GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1) Homo sapiens

Symbol: CV158610
Name: GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1
Condition: See cases [RCV000137924]
Clinical Significance: pathogenic
Last Evaluated: 11/04/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB5   AGMO   AGR2   AGR3   AHR   ANKMY2   BZW2   CCDC126   CDCA7L   CRPPA   CRPPA-AS1   DNAH11   FAM126A   FAM221A   FERD3L   GPNMB   GSDME   HDAC9   HDAC9-AS1   IGF2BP3   IL6   IL6-AS1   ITGB8   KLHL7   KLHL7-DT   LINC01162   LINC02587   LRRC72   MACC1   MACC1-AS1   MALSU1   MEOX2   MIR1183   MIR1302-6   MIR3146   MPP6   NPY   NUP42   OSBPL3   PRPS1L1   RAPGEF5   SNHG26   SNORD65C   SNORD93   SNX13   SOSTDC1   SP4   SP8   STEAP1B   STK31   TMEM196   TOMM7   TRA2A   TSPAN13   TWIST1   TWISTNB  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_15533812)_(24851432_?)del
NC_000007.13:g.(?_15573437)_(24891051_?)del
NC_000007.12:g.(?_15539962)_(24857576_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38715,533,812 - 24,851,432CLINVAR
GRCh37715,573,437 - 24,891,051CLINVAR
Build 36715,539,962 - 24,857,576CLINVAR
Cytogenetic Map77p21.2-15.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485475
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.