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Variant : CV157360 (GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1) Homo sapiens

Symbol: CV157360
Name: GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1
Condition: See cases [RCV000136775]
Clinical Significance: pathogenic
Last Evaluated: 01/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB5   ADCYAP1R1   AQP1   C7orf31   CBX3   CCDC126   CDCA7L   CHN2   CHN2-AS1   CPVL   CREB5   CRHR2   CYCS   DNAH11   EVX1   EVX1-AS   FAM126A   FAM221A   FKBP14   GARS-DT   GARS1   GGCT   GHRHR   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   INMT   INMT-MINDY4   ITPRID1   JAZF1   JAZF1-AS1   KIAA0087   KLHL7   KLHL7-DT   LINC01162   LINC01176   LINC02860   MALSU1   MINDY4   MIR1183   MIR148A   MIR196B   MIR550A1   MIR550A3   MIR550B1   MPP6   MTURN   NEUROD6   NFE2L3   NOD1   NPVF   NPY   NUP42   OSBPL3   PDE1C   PLEKHA8   PPP1R17   PRR15   RAPGEF5   SCRN1   SKAP2   SNHG26   SNORD65C   SNORD93   SNX10   SP4   SP8   STEAP1B   STK31   TAX1BP1   TOMM7   TRA2A   TRIL   WIPF3   ZNRF2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_20561456)_(32005143_?)del
NC_000007.13:g.(?_20601079)_(32044755_?)del
NC_000007.12:g.(?_20567604)_(32011280_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38720,561,456 - 32,005,143CLINVAR
GRCh37720,601,079 - 32,044,755CLINVAR
Build 36720,567,604 - 32,011,280CLINVAR
Cytogenetic Map77p21.1-14.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484336
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.