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Variant : CV383017 (GRCh37/hg19 1p36.21-36.13(chr1:13178371-19961858)x1) Homo sapiens

Symbol: CV383017
Name: GRCh37/hg19 1p36.21-36.13(chr1:13178371-19961858)x1
Condition: See cases [RCV000447987]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACTL8   AGMAT   AKR7A2   AKR7A3   AKR7L   ALDH4A1   ARHGEF10L   ARHGEF19   ATP13A2   CAPZB   CASP9   CELA2A   CELA2B   CLCNKA   CLCNKB   CPLANE2   CROCC   CTRC   DDI2   DNAJC16   EFHD2   EMC1   EPHA2   FAM131C   FBLIM1   FBXO42   FHAD1   HNRNPCL2   HSPB7   IFFO2   IGSF21   KAZN   KLHDC7A   LINC01783   LRRC38   MFAP2   MICOS10   MICOS10-NBL1   MRTO4   MST1L   NBPF1   NECAP2   PADI1   PADI2   PADI3   PADI4   PADI6   PAX7   PDPN   PLEKHM2   PRAMEF13   PRAMEF15   PRAMEF17   PRAMEF18   PRAMEF19   PRAMEF20   PRAMEF5   PRAMEF8   PRAMEF9   PRDM2   RCC2   RNU1-4   RSC1A1   SDHB   SLC25A34   SLC66A1   SPATA21   SPEN   SRARP   SZRD1   TAS1R2   TMEM51   TMEM82   TRE-TTC3-1   TRNAG1   TRQ-CTG14-1   UBR4   ZBTB17  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37113,178,371 - 19,961,858CLINVAR
Cytogenetic Map11p36.21-36.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852698
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-21
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.