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Variant : CV73113 (GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1) Homo sapiens

Symbol: CV73113
Name: GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1
Condition: Plagiocephaly [RCV000052281]|See cases [RCV000052281]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AGMO   AGR2   AGR3   AHR   ANKMY2   ARL4A   BZW2   CRPPA   CRPPA-AS1   DGKB   ETV1   FERD3L   HDAC9   HDAC9-AS1   LINC02587   LRRC72   MEOX2   MIR1302-6   NDUFA4   PHF14   PRPS1L1   SCIN   SNX13   SOSTDC1   THSD7A   TMEM106B   TSPAN13   TWIST1   VWDE  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_9975653)_(19356878_?)del
NC_000007.13:g.(?_10015280)_(19396501_?)del
NC_000007.12:g.(?_9981805)_(19363026_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3879,975,653 - 19,356,878CLINVAR
GRCh37710,015,280 - 19,396,501CLINVAR
Build 3679,981,805 - 19,363,026CLINVAR
Cytogenetic Map77p21.3-21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619278
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.