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Variant : CV74153 (GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1) Homo sapiens

Symbol: CV74153
Name: GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAMTS16   ADCY2   AHRR   ANKH   ANKRD33B   ATPSCKMT   BASP1   BASP1-AS1   BRD9   C5orf38   C5orf49   CCDC127   CCT5   CEP72   CLPTM1L   CMBL   CTNND2   DAP   DNAH5   EXOC3   EXOC3-AS1   FASTKD3   FBXL7   ICE1   IRX1   IRX2   IRX4   LINC01017   LINC01018   LINC01019   LINC01020   LINC01194   LINC01377   LINC01511   LINC02063   LINC02102   LINC02111   LINC02112   LINC02114   LINC02116   LINC02121   LINC02123   LINC02142   LINC02145   LINC02149   LINC02150   LINC02162   LINC02199   LINC02212   LINC02213   LINC02217   LINC02220   LINC02221   LINC02226   LPCAT1   LRRC14B   MARCHF11   MARCHF6   MED10   MIR4277   MIR4278   MIR4456   MIR4457   MIR4458   MIR4458HG   MIR4635   MIR4636   MIR4637   MIR6075   MIR6131   MIR887   MRPL36   MTRR   MYO10   NDUFS6   NKD2   NSUN2   OTULIN   OTULINL   PDCD6   PLEKHG4B   RETREG1   ROPN1L   ROPN1L-AS1   SDHA   SEMA5A   SEMA5A-AS1   SLC12A7   SLC6A18   SLC6A19   SLC6A3   SLC9A3   SLC9A3-AS1   SNHG18   SNORD123   SNORD141B   SRD5A1   TAS2R1   TENT4A   TERT   TPPP   TRIO   TRIP13   UBE2QL1   ZDHHC11   ZDHHC11B   ZNF622  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_22149)_(17425613_?)del
Human AssemblyChrPosition (strand)Source
GRCh38522,149 - 17,425,613CLINVAR
GRCh37522,149 - 17,425,722CLINVAR
Build 36575,149 - 17,478,722CLINVAR
Cytogenetic Map55p15.33-15.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability

Additional Information

CRRD Object Information
CRRD ID: 8620338
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE


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