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Variant : CV74838 (GRCh38/hg38 7q11.23(chr7:73614671-73942928)x1) Homo sapiens

Symbol: CV74838
Name: GRCh38/hg38 7q11.23(chr7:73614671-73942928)x1
Condition: See cases [RCV000054117]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD11   ABHD11-AS1   BUD23   CLDN3   CLDN4   DNAJC30   METTL27   MIR4284   MLXIPL   STX1A   TMEM270   VPS37D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_73614671)_(73942928_?)del
NW_003871064.1:g.(?_1143907)_(1472164_?)del
NC_000007.12:g.(?_72666937)_(72995194_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38773,614,671 - 73,942,928CLINVAR
Build 36772,666,937 - 72,995,194CLINVAR
Cytogenetic Map77q11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8621030
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
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.