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Variant : CV155371 (GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1) Homo sapiens

Symbol: CV155371
Name: GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1
Condition: See cases [RCV000134954]
Clinical Significance: likely pathogenic
Last Evaluated: 01/24/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ASPHD2   CRYBA4   CRYBB1   CRYBB2   CRYBB3   GRK3   HPS4   KIAA1671   KIAA1671-AS1   LINC01422   LINC01638   LINC02554   LINC02559   LRP5L   MIAT   MIATNB   MIR3199-1   MIR3199-2   MIR548J   MIR5739   MIR6817   MN1   MYO18B   MYO18B-AS1   PITPNB   SEZ6L   SRRD   TFIP11   TPST2   TTC28   TTC28-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_25003092)_(28634004_?)del
NC_000022.10:g.(?_25399059)_(29029992_?)del
NC_000022.9:g.(?_23729059)_(27359992_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382225,003,092 - 28,634,004CLINVAR
GRCh372225,399,059 - 29,029,992CLINVAR
Build 362223,729,059 - 27,359,992CLINVAR
Cytogenetic Map2222q11.23-12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482527
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.