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Variant : CV554143 (GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1) Homo sapiens

Symbol: CV554143
Name: GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1
Condition: not provided [RCV000682448]
Clinical Significance: pathogenic
Last Evaluated: 11/09/2017
Review Status: no assertion criteria provided
Related Genes: ABHD18   ADAD1   ANKRD50   ANXA5   BBS12   BBS7   C4orf3   CCNA2   EXOSC9   FABP2   FAT4   FGF2   HSPA4L   IL2   IL21   INTU   KIAA1109   LARP1B   MAD2L1   METTL14   MFSD8   MYOZ2   NDNF   NDST3   NUDT6   PDE5A   PGRMC2   PLK4   PRDM5   PRSS12   QRFPR   SEC24D   SLC25A31   SNHG8   SPATA5   SPRY1   SYNPO2   TMEM155   TNIP3   TRAM1L1   TRPC3   USP53  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000004.11:g.(?_116307857)_(129302960_?)del
Human AssemblyChrPosition (strand)Source
GRCh374116,307,857 - 129,302,960CLINVAR
Cytogenetic Map44q26-28.2CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13795297
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.