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Variant : CV73026 (GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3) Homo sapiens

Symbol: CV73026
Name: GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052185]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052185]|See cases [RCV000052185]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANGPT1   EBAG9   EIF3E   EMC2   ENY2   KCNV1   NUDCD1   PKHD1L1   RSPO2   SYBU   TMEM74   TRHR  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_107356178)_(110913494_?)dup
NC_000008.10:g.(?_108368406)_(111925723_?)dup
NC_000008.9:g.(?_108437582)_(111994899_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh388107,356,178 - 110,913,494CLINVAR
GRCh378108,368,406 - 111,925,723CLINVAR
Build 368108,437,582 - 111,994,899CLINVAR
Cytogenetic Map88q23.1-23.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619189
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.