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Variant : CV73375 (GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1) Homo sapiens

Symbol: CV73375
Name: GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1
Condition: Polymicrogyria [RCV000052568]|See cases [RCV000052568]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACTR1A   ARL3   AS3MT   ATP5MD   BORCS7   BORCS7-ASMT   C10orf95   CALHM1   CALHM2   CALHM3   CNNM2   CUEDC2   CYP17A1   CYP17A1-AS1   FBXL15   GBF1   INA   MFSD13A   MIR1307   MIR146B   NEURL1   NEURL1-AS1   NFKB2   NT5C2   PCGF6   PDCD11   PSD   RPARP-AS1   RPEL1   SFXN2   SH3PXD2A   SH3PXD2A-AS1   STN1   SUFU   TAF5   TRIM8   WBP1L  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_102243341)_(103929730_?)del
NC_000010.10:g.(?_104003098)_(105689488_?)del
NC_000010.9:g.(?_103993088)_(105679478_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3810102,243,341 - 103,929,730CLINVAR
GRCh3710104,003,098 - 105,689,488CLINVAR
Build 3610103,993,088 - 105,679,478CLINVAR
Cytogenetic Map1010q24.32-24.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619544
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
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.