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Variant : CV673235 (GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3) Homo sapiens

Symbol: CV673235
Name: GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3
Condition: not provided [RCV000846351]
Clinical Significance: pathogenic
Last Evaluated: 10/31/2017
Review Status: no assertion criteria provided
Related Genes: ADCY9   ALG1   ANKS3   C16orf71   C16orf89   C16orf96   CDIP1   CORO7   CORO7-PAM16   CREBBP   DNAJA3   EEF2KMT   GLIS2   GLYR1   HMOX2   MGRN1   NAGPA   NMRAL1   NUDT16L1   PAM16   PPL   ROGDI   SEC14L5   SEPTIN12   SMIM22   SRL   TFAP4   TRAP1   UBALD1   UBN1   VASN   ZNF500  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37163,731,117 - 5,325,699CLINVAR
Cytogenetic Map1616p13.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14976273
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-01-14
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.