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Variant : CV73704 (GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1) Homo sapiens

Symbol: CV73704
Name: GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052907]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052907]|See cases [RCV000052907]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: C9orf40   CARNMT1   CARNMT1-AS1   CEP78   FOXB2   GCNT1   GNA14   GNA14-AS1   GNAQ   LINC01507   NMRK1   OSTF1   PCA3   PCSK5   PRUNE2   PSAT1   RFK   RORB   RORB-AS1   TLE4   TRPM6   VPS13A   VPS13A-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_73706686)_(80370629_?)del
NC_000009.11:g.(?_76321602)_(82985544_?)del
NC_000009.10:g.(?_75511422)_(82175364_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38973,706,686 - 80,370,629CLINVAR
GRCh37976,321,602 - 82,985,544CLINVAR
Build 36975,511,422 - 82,175,364CLINVAR
Cytogenetic Map99q21.13-21.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619877
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.