Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV73975 (GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1) Homo sapiens

Symbol: CV73975
Name: GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADPGK   ADPGK-AS1   ARID3B   ARIH1   BBS4   C15orf39   CCDC33   CD276   CELF6   CLK3   COMMD4   COX5A   CPLX3   CSK   CSPG4   CT62   CYP11A1   CYP1A1   CYP1A2   EDC3   FAM219B   FBXO22   GOLGA6A   GOLGA6B   GOLGA6C   GOLGA6D   GRAMD2A   HCN4   HEXA   HEXA-AS1   HIGD2B   IMP3   INSYN1   INSYN1-AS1   ISLR   ISLR2   LARP6   LINC02255   LINC02259   LMAN1L   LOXL1   LOXL1-AS1   LRRC49   MAN2C1   MIR4313   MIR4513   MIR630   MIR631   MIR6881   MIR6882   MPI   MYO9A   NEIL1   NEO1   NPTN   NPTN-IT1   NR2E3   NRG4   ODF3L1   PARP6   PKM   PML   PPCDC   PTPN9   REC114   RPP25   SCAMP2   SCAMP5   SEMA7A   SENP8   SIN3A   SNUPN   SNX33   STOML1   STRA6   TBC1D21   THAP10   THSD4   THSD4-AS1   THSD4-AS2   TMEM202   TMEM202-AS1   UBE2Q2   UBL7   UBL7-AS1   ULK3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_70788624)_(76057736_?)del
NC_000015.9:g.(?_71080963)_(76350077_?)del
NC_000015.8:g.(?_68868017)_(74137132_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381570,788,624 - 76,057,736CLINVAR
GRCh371571,080,963 - 76,350,077CLINVAR
Build 361568,868,017 - 74,137,132CLINVAR
Cytogenetic Map1515q23-24.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620156
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE



NHLBI Logo

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