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Variant : CV73930 (GRCh38/hg38 8p23.1(chr8:7411297-12546553)x1) Homo sapiens

Symbol: CV73930
Name: GRCh38/hg38 8p23.1(chr8:7411297-12546553)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]|See cases [RCV000053168]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BLK   C8orf49   C8orf74   CLDN23   CTSB   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB109C   DEFB130A   DEFB130B   DEFB134   DEFB135   DEFB136   DEFB4A   DEFB4B   ERI1   FAM167A   FAM167A-AS1   FAM66A   FAM66D   FAM66E   FAM85A   FAM85B   FAM86B1   FAM86B2   FAM90A10P   FAM90A12P   FAM90A14P   FAM90A18P   FAM90A19P   FAM90A7P   FAM90A8P   FAM90A9P   FDFT1   GATA4   LINC00208   MFHAS1   MIR124-1   MIR124-1HG   MIR1322   MIR4286   MIR4660   MIR548I3   MIR597   MIR598   MSRA   MTMR9   NEIL2   PINX1   PPP1R3B   PRAG1   PRR23D1   PRR23D2   PRSS51   PRSS55   RP1L1   SLC35G5   SNORA99   SOX7   SPAG11A   SPAG11B   TDH   TNKS   USP17L2   USP17L3   USP17L7   USP17L8   XKR6   ZNF705B   ZNF705D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_7411297)_(12546553_?)del
NC_000008.10:g.(?_7268819)_(12404062_?)del
NC_000008.9:g.(?_7256229)_(12448433_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3887,411,297 - 12,546,553CLINVAR
GRCh3787,268,819 - 12,404,062CLINVAR
Build 3687,256,229 - 12,448,433CLINVAR
Cytogenetic Map88p23.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620108
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.