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Variant : CV157544 (GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1) Homo sapiens

Symbol: CV157544
Name: GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1
Condition: See cases [RCV000136932]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGMO   AGR2   AGR3   AHR   ANKMY2   BZW2   CRPPA   CRPPA-AS1   DGKB   ETV1   HDAC9   LINC02587   LRRC72   MEOX2   MIR1302-6   PRPS1L1   SNX13   SOSTDC1   TSPAN13  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_13966197)_(18321354_?)del
NC_000007.13:g.(?_14005822)_(18360977_?)del
NC_000007.12:g.(?_13972347)_(18327502_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38713,966,197 - 18,321,354CLINVAR
GRCh37714,005,822 - 18,360,977CLINVAR
Build 36713,972,347 - 18,327,502CLINVAR
Cytogenetic Map77p21.2-21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484493
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.