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Variant : CV820437 (NC_000012.11:g.(?_6945914)_(8248706_?)dup) Homo sapiens

Symbol: CV820437
Name: NC_000012.11:g.(?_6945914)_(8248706_?)dup
Condition: Temtamy syndrome [RCV001031096]
Clinical Significance: uncertain significance
Last Evaluated: 11/27/2019
Review Status: criteria provided, single submitter
Related Genes: ACSM4   APOBEC1   ATN1   C12orf57   C1R   C1RL   C1S   C3AR1   CD163   CD163L1   CDCA3   CLEC4C   CLSTN3   DPPA3   EMG1   ENO2   FOXJ2   GDF3   GNB3   LPCAT3   LRRC23   MIR141   MIR200C   NANOG   NANOGNB   NECAP1   P3H3   PEX5   PHB2   PTPN6   RBP5   SLC2A14   SLC2A3   SPSB2   TPI1   USP5  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000012.11:g.(?_6945914)_(8248706_?)dup
Human AssemblyChrPosition (strand)Source
GRCh37126,945,914 - 8,248,706CLINVAR
Cytogenetic Map1212p13.31CLINVAR
Trait Synonyms: Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation; Dysmorphism, corpus callosum agenesis and colobomas; MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULAR COLOBOMA, OR ABNORMAL CORPUS CALLOSUM

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 26888978
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE


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