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Variant : CV555319 (GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1) Homo sapiens

Symbol: CV555319
Name: GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1
Condition: not provided [RCV000683624]
Clinical Significance: pathogenic
Last Evaluated: 05/21/2018
Review Status: no assertion criteria provided
Related Genes: BRMS1L   C14orf28   CLEC14A   FANCM   FBXO33   FKBP3   FOXA1   FSCB   GEMIN2   INSM2   KLHL28   LRFN5   MBIP   MIPOL1   MIS18BP1   NKX2-1   NKX2-8   PAX9   PNN   PRPF39   PTCSC3   RALGAPA1   RPL10L   SEC23A   SFTA3   SLC25A21   SSTR1   TOGARAM1   TRAPPC6B   TTC6  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371435,934,503 - 47,120,961CLINVAR
Cytogenetic Map1414q13.2-21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13797207
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.