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Variant : CV247895 (GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3) Homo sapiens

Symbol: CV247895
Name: GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3
Condition: See cases [RCV000240190]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: APBB2   ATP10D   ATP8A1   BEND4   CHRNA9   CNGA1   COMMD8   CORIN   COX7B2   CWH43   DCAF4L1   FAM114A1   FRYL   GABRA2   GABRA4   GABRB1   GABRG1   GNPDA2   GRXCR1   GUF1   KCTD8   KLB   KLF3   KLHL5   LIAS   LIMCH1   N4BP2   NFXL1   NIPAL1   NSUN7   OCIAD1   OCIAD2   PDS5A   PHOX2B   RBM47   RFC1   RHOH   RPL9   SHISA3   SLAIN2   SLC10A4   SLC30A9   SMIM14   TEC   TLR1   TLR10   TLR6   TMEM156   TMEM33   TXK   UBE2K   UCHL1   UGDH   WDR19   YIPF7   ZAR1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37438,532,827 - 49,064,044CLINVAR
Cytogenetic Map44p14-11CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541629
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.