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Variant : CV74148 (GRCh38/hg38 4p16.3-16.2(chr4:1598653-4722090)x1) Homo sapiens

Symbol: CV74148
Name: GRCh38/hg38 4p16.3-16.2(chr4:1598653-4722090)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|See cases [RCV000053396]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADD1   ADRA2C   C4orf48   CFAP99   DOK7   FAM193A   FAM53A   FGFR3   GRK4   HAUS3   HGFAC   HTT   HTT-AS   LETM1   LINC00955   LINC02171   LRPAP1   LYAR   MFSD10   MIR4800   MIR943   MSANTD1   MXD4   NAT8L   NELFA   NOP14   NOP14-AS1   NSD2   NSG1   OTOP1   POLN   RGS12   RNF4   SCARNA22   SH3BP2   SLBP   STX18   STX18-AS1   STX18-IT1   TACC3   TMEM128   TMEM129   TNIP2   ZBTB49   ZFYVE28  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_1598653)_(4722090_?)del
NC_000004.11:g.(?_1600380)_(4723817_?)del
NC_000004.10:g.(?_1570340)_(4774718_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3841,598,653 - 4,722,090CLINVAR
GRCh3741,600,380 - 4,723,817CLINVAR
Build 3641,570,340 - 4,774,718CLINVAR
Cytogenetic Map44p16.3-16.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620333
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.