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Variant : CV382747 (GRCh37/hg19 2q37.1(chr2:232215111-235593473)x1) Homo sapiens

Symbol: CV382747
Name: GRCh37/hg19 2q37.1(chr2:232215111-235593473)x1
Condition: See cases [RCV000446723]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ALPG   ALPI   ALPP   ARL4C   ARMC9   ATG16L1   B3GNT7   CHRND   CHRNG   COPS7B   DGKD   DIS3L2   DNAJB3   ECEL1   EFHD1   EIF4E2   GIGYF2   HJURP   KCNJ13   MROH2A   NCL   NEU2   NGEF   NMUR1   NPPC   PDE6D   PRSS56   PTMA   SAG   SNORC   SNORD20   SNORD82   SPP2   TEX44   TIGD1   TRPM8   UGT1A1   UGT1A10   UGT1A3   UGT1A4   UGT1A5   UGT1A6   UGT1A7   UGT1A8   UGT1A9   USP40  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372232,215,111 - 235,593,473CLINVAR
Cytogenetic Map22q37.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12851446
Created: 2017-04-11
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.