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Variant : CV157911 (GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1) Homo sapiens

Symbol: CV157911
Name: GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1
Condition: See cases [RCV000137236]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGR2   AGR3   AHR   ANKMY2   BZW2   CRPPA   CRPPA-AS1   FERD3L   HDAC9   HDAC9-AS1   ITGB8   LRRC72   MACC1   MACC1-AS1   MIR1302-6   MIR3146   PRPS1L1   SNX13   SOSTDC1   TMEM196   TSPAN13   TWIST1   TWISTNB  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_16121516)_(20607899_?)del
NC_000007.13:g.(?_16161141)_(20647522_?)del
NC_000007.12:g.(?_16127666)_(20614047_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38716,121,516 - 20,607,899CLINVAR
GRCh37716,161,141 - 20,647,522CLINVAR
Build 36716,127,666 - 20,614,047CLINVAR
Cytogenetic Map77p21.2-21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484795
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.