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Variant : CV163370 (GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1) Homo sapiens

Symbol: CV163370
Name: GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1
Condition: See cases [RCV000141940]
Clinical Significance: pathogenic
Last Evaluated: 08/02/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADD1   ADRA2C   C4orf48   C4orf50   CFAP99   CRMP1   CYTL1   DOK7   EVC   EVC2   FAM193A   GRK4   HAUS3   HGFAC   HTT   HTT-AS   LINC00955   LINC01396   LINC01587   LINC02171   LOC101928279   LOC101928306   LOC106804089   LOC109461479   LOC110120757   LOC111519897   LOC112939930   LOC112939936   LOC112942284   LOC116158484   LRPAP1   LYAR   MFSD10   MIR4800   MIR943   MSANTD1   MSX1   MXD4   NAT8L   NELFA   NOP14   NOP14-AS1   NSD2   NSG1   OTOP1   POLN   RGS12   RNF4   SCARNA22   SH3BP2   SNORD162   STK32B   STX18   STX18-AS1   STX18-IT1   TMEM128   TNIP2   ZBTB49   ZFYVE28  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_1964539)_(5912172_?)del
Human AssemblyChrPosition (strand)Source
GRCh3841,964,539 - 5,912,172CLINVAR
GRCh3741,966,266 - 5,913,899CLINVAR
Build 3641,936,064 - 5,964,800CLINVAR
Cytogenetic Map44p16.3-16.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489461
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


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