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Variant : CV383284 (GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3) Homo sapiens

Symbol: CV383284
Name: GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3
Condition: See cases [RCV000449311]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADAM30   AMPD1   ATP1A1   BCAS2   CASQ2   CD101   CD2   CD58   CSDE1   DENND2C   GDAP2   HAO2   HIPK1   HMGCS2   HSD3B1   HSD3B2   IGSF3   LINC01649   MAB21L3   MAN1A2   NBPF7   NGF   NHLH2   NOTCH2   NRAS   OLFML3   PHGDH   PTGFRN   REG4   SIKE1   SLC22A15   SPAG17   SYCP1   SYT6   TBX15   TENT5C   TRIM33   TRIM45   TSHB   TSPAN2   TTF2   VANGL1   VTCN1   WARS2   WDR3   ZNF697  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371114,507,501 - 120,494,232CLINVAR
Cytogenetic Map11p13.2-12CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12854007
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.