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Variant : CV155863 (GRCh38/hg38 7q21.3(chr7:95127070-97873487)x1) Homo sapiens

Symbol: CV155863
Name: GRCh38/hg38 7q21.3(chr7:95127070-97873487)x1
Condition: See cases [RCV000135435]
Clinical Significance: pathogenic
Last Evaluated: 07/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ASB4   ASNS   CZ1P-ASNS   DLX5   DLX6   DLX6-AS1   DYNC1I1   MIR591   PDK4   PON1   PON2   PON3   PPP1R9A   PPP1R9A-AS1   SDHAF3   SEM1   SLC25A13   TAC1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_95127070)_(97873487_?)del
NC_000007.13:g.(?_94756382)_(97502799_?)del
NC_000007.12:g.(?_94594318)_(97340735_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38795,127,070 - 97,873,487CLINVAR
GRCh37794,756,382 - 97,502,799CLINVAR
Build 36794,594,318 - 97,340,735CLINVAR
Cytogenetic Map77q21.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483008
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.