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Variant : CV158822 (GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3) Homo sapiens

Symbol: CV158822
Name: GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3
Condition: See cases [RCV000138129]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 01/23/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADD1   ADRA2C   C4orf48   CFAP99   DOK7   FAM193A   GRK4   HAUS3   HGFAC   HTT   HTT-AS   LINC00955   LINC02171   LRPAP1   MFSD10   MIR4800   MSANTD1   MXD4   NAT8L   NELFA   NOP14   NOP14-AS1   POLN   RGS12   RNF4   SH3BP2   TNIP2   ZFYVE28  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_2019774)_(3881330_?)dup
NC_000004.11:g.(?_2021501)_(3883057_?)dup
NC_000004.10:g.(?_1991299)_(3852855_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3842,019,774 - 3,881,330CLINVAR
GRCh3742,021,501 - 3,883,057CLINVAR
Build 3641,991,299 - 3,852,855CLINVAR
Cytogenetic Map44p16.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485678
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-08
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.