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Variant : CV73094 (GRCh38/hg38 9q34.11(chr9:128808545-129002107)x3) Homo sapiens

Symbol: CV73094
Name: GRCh38/hg38 9q34.11(chr9:128808545-129002107)x3
Condition: Cleft palate, isolated [RCV000052257]|See cases [RCV000052257]
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: DOLK   ENDOG   KYAT1   LRRC8A   NUP188   PHYHD1   SPOUT1   TBC1D13  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_128808545)_(129002107_?)dup
NC_000009.11:g.(?_131570824)_(131764386_?)dup
NC_000009.10:g.(?_130610645)_(130804207_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389128,808,545 - 129,002,107CLINVAR
GRCh379131,570,824 - 131,764,386CLINVAR
Build 369130,610,645 - 130,804,207CLINVAR
Cytogenetic Map99q34.11CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619259
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.