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Variant : CV555522 (GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1) Homo sapiens

Symbol: CV555522
Name: GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1
Condition: not provided [RCV000683827]
Clinical Significance: likely pathogenic
Last Evaluated: 10/02/2017
Review Status: no assertion criteria provided
Related Genes: AP1G1   ATXN1L   CALB2   CHST4   CMTR2   DHODH   DHX38   HP   HPR   HYDIN   IL34   IST1   MARVELD3   MTSS2   PHLPP2   PKD1L3   PMFBP1   TAT   TXNL4B   VAC14   ZFHX3   ZNF19   ZNF23   ZNF821  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371670,646,969 - 72,849,701CLINVAR
Cytogenetic Map1616q22.1-22.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13797792
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.