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Variant : CV157766 (GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1) Homo sapiens

Symbol: CV157766
Name: GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1
Condition: See cases [RCV000137109]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARL8B   BHLHE40   BHLHE40-AS1   CAV3   CHL1   CHL1-AS1   CHL1-AS2   CNTN4   CNTN4-AS1   CNTN4-AS2   CNTN6   CRBN   EDEM1   EGOT   GRM7   GRM7-AS1   GRM7-AS2   GRM7-AS3   IL5RA   ITPR1   ITPR1-DT   LINC00312   LINC01266   LMCD1   LMCD1-AS1   LRRN1   MIR4790   OXTR   RAD18   SETD5   SETMAR   SRGAP3   SRGAP3-AS2   SRGAP3-AS3   SRGAP3-AS4   SSUH2   SUMF1   THUMPD3   THUMPD3-AS1   TRNT1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_52266)_(9450310_?)del
NC_000003.11:g.(?_93949)_(9491994_?)del
NC_000003.10:g.(?_68949)_(9466994_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38352,266 - 9,450,310CLINVAR
GRCh37393,949 - 9,491,994CLINVAR
Build 36368,949 - 9,466,994CLINVAR
Cytogenetic Map33p26.3-25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484668
Created: 2014-09-09
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.