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Variant : CV74376 (GRCh38/hg38 5q22.3(chr5:114504911-115696544)x3) Homo sapiens

Symbol: CV74376
Name: GRCh38/hg38 5q22.3(chr5:114504911-115696544)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053647]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053647]|See cases [RCV000053647]
Clinical Significance: benign
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CCDC112   FEM1C   LINC01957   PGGT1B   TICAM2   TMED7   TMED7-TICAM2   TRIM36  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_114504911)_(115696544_?)dup
NC_000005.9:g.(?_113840608)_(115032241_?)dup
NC_000005.8:g.(?_113868507)_(115060140_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh385114,504,911 - 115,696,544CLINVAR
GRCh375113,840,608 - 115,032,241CLINVAR
Build 365113,868,507 - 115,060,140CLINVAR
Cytogenetic Map55q22.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620566
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.