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Variant : CV164395 (GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1) Homo sapiens

Symbol: CV164395
Name: GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1
Condition: See cases [RCV000142708]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB5   AGMO   AGR2   AGR3   AHR   ANKMY2   ARL4A   BZW2   C7orf31   CCDC126   CDCA7L   CRPPA   CRPPA-AS1   CYCS   DGKB   DNAH11   ETV1   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   NDUFA4   NPVF   NPY   NUP42   OSBPL3   PHF14   PRPS1L1   RAPGEF5   SCIN   SNHG26   SNORD65C   SNORD93   SNX13   SOSTDC1   SP4   SP8   STEAP1B   STK31   THSD7A   TMEM106B   TMEM196   TOMM7   TRA2A   TSPAN13   TWIST1   TWISTNB   VWDE  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_10610069)_(25760560_?)del
NC_000007.13:g.(?_10649696)_(25800180_?)del
NC_000007.12:g.(?_10616221)_(25766705_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38710,610,069 - 25,760,560CLINVAR
GRCh37710,649,696 - 25,800,180CLINVAR
Build 36710,616,221 - 25,766,705CLINVAR
Cytogenetic Map77p21.3-15.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490306
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.