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

Variant : CV73931 (GRCh37/hg19 8p23.1(chr8:8079861-12039974)x1) Homo sapiens

Symbol: CV73931
Name: GRCh37/hg19 8p23.1(chr8:8079861-12039974)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053169]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053169]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter
Related Genes: BLK   C8orf74   CLDN23   CTSB   DEFB134   DEFB135   DEFB136   ERI1   FAM167A   FAM86B1   FDFT1   GATA4   MFHAS1   MIR124-1   MSRA   MTMR9   NEIL2   PINX1   PPP1R3B   PRSS51   PRSS55   RP1L1   SLC35G5   SOX7   TDH   TNKS   USP17L2   USP17L7   XKR6   ZNF705D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.10:g.(?_8079861)_(12039974_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3788,079,861 - 12,039,974CLINVAR
Cytogenetic Map88p23.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620109
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2014-09-02
Status: ACTIVE



NHLBI Logo

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