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Variant : CV247988 (GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1) Homo sapiens

Symbol: CV247988
Name: GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1
Condition: See cases [RCV000240182]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: APOC1   APOC2   APOC4   APOE   BCAM   BCL3   BLOC1S3   CADM4   CALM3   CBLC   CCDC61   CCDC8   CD177   CEACAM1   CEACAM16   CEACAM19   CEACAM20   CEACAM8   CKM   CLASRP   CLPTM1   DACT3   DMPK   DMWD   EML2   ERCC1   ERCC2   ETHE1   EXOC3L2   FBXO46   FOSB   FOXA3   GEMIN7   GIPR   GNG8   GPR4   HIF3A   IGFL1   IGFL2   IGFL3   IGFL4   IGSF23   IRF2BP1   IRGC   IRGQ   KCNN4   KLC3   LYPD3   LYPD5   MARK4   MYPOP   NANOS2   NECTIN2   NKPD1   NOVA2   OPA3   PGLYRP1   PHLDB3   PINLYP   PLAUR   PNMA8A   PNMA8B   POLR1G   PPM1N   PPP1R13L   PPP1R37   PPP5C   PPP5D1   PRKD2   PSG1   PSG11   PSG2   PSG3   PSG4   PSG5   PSG6   PSG7   PSG8   PSG9   PTGIR   PVR   QPCTL   RELB   RSPH6A   RTN2   SIX5   SMG9   SNRPD2   SRRM5   STRN4   SYMPK   TEX101   TOMM40   TRAPPC6A   TRU-TCA1-1   VASP   XRCC1   ZNF112   ZNF155   ZNF180   ZNF221   ZNF222   ZNF223   ZNF224   ZNF225   ZNF226   ZNF227   ZNF229   ZNF230   ZNF233   ZNF234   ZNF235   ZNF283   ZNF284   ZNF285   ZNF296   ZNF404   ZNF428   ZNF45   ZNF575   ZNF576  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371943,013,365 - 47,241,534CLINVAR
Cytogenetic Map1919q13.2-13.32CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541622
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-09-08
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.