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Variant : CV158761 (GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1) Homo sapiens

Symbol: CV158761
Name: GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1
Condition: See cases [RCV000138070]
Clinical Significance: pathogenic
Last Evaluated: 01/10/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACTL8   AKR7A2   AKR7A3   AKR7L   ALDH4A1   ARHGEF10L   ARHGEF19   ATP13A2   CAPZB   CLCNKA   CLCNKB   CPLANE2   CROCC   EMC1   EMC1-AS1   EPHA2   FAM131C   FBLIM1   FBXO42   HSPB7   IFFO2   IGSF21   IGSF21-AS1   KLHDC7A   LINC01654   LINC01772   LINC01783   LINC02783   MFAP2   MICOS10   MICOS10-NBL1   MIR1290   MIR3675   MIR3972   MIR4695   MRTO4   MST1L   NBL1   NBPF1   NECAP2   PADI1   PADI2   PADI3   PADI4   PADI6   PAX7   PLEKHM2   RCC2   RNU1-1   RNU1-2   RNU1-3   RNU1-4   SDHB   SLC25A34   SLC25A34-AS1   SLC66A1   SPATA21   SPEN   SRARP   SZRD1   TAS1R2   TMEM82   TRE-TTC3-1   TRE-TTC4-1   TRG-CCC1-1   TRG-CCC1-2   TRG-CCC4-1   TRG-CCC5-1   TRN-GTT13-1   TRN-GTT4-1   TRN-GTT5-1   TRQ-CTG14-1   UBR4   UQCRHL   ZBTB17  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_15681812)_(19662339_?)del
Human AssemblyChrPosition (strand)Source
GRCh38115,681,812 - 19,662,339CLINVAR
GRCh37116,008,307 - 19,988,832CLINVAR
Build 36115,880,894 - 19,861,419CLINVAR
Cytogenetic Map11p36.21-36.13CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9485619
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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