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Variant : CV155875 (GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1) Homo sapiens

Symbol: CV155875
Name: GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1
Condition: See cases [RCV000135447]
Clinical Significance: pathogenic
Last Evaluated: 07/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADGRB2   AK2   AZIN2   BSDC1   CCDC28B   COL16A1   DCDC2B   EIF3I   EPB41   FABP3   FAM167B   FAM229A   FNDC5   GMEB1   HCRTR1   HDAC1   HPCA   IQCC   KHDRBS1   KIAA1522   KPNA6   LAPTM5   LCK   LINC01226   LINC01648   LINC01715   LINC01756   LINC01778   MARCKSL1   MATN1   MATN1-AS1   MECR   MIR4254   MIR4420   MIR5585   NKAIN1   OPRD1   PEF1   PHACTR4   PTP4A2   PTPRU   PUM1   RAB42   RBBP4   RCC1   RNF19B   RNU11   S100PBP   SDC3   SERINC2   SNHG12   SNHG3   SNORA16A   SNORA44   SNORA61   SNORA73A   SNORA73B   SNORD103A   SNORD103B   SNORD103C   SNORD99   SNRNP40   SPOCD1   SRSF4   SYNC   TAF12   TINAGL1   TMEM200B   TMEM234   TMEM39B   TMEM54   TRNAU1AP   TSSK3   TXLNA   YARS1   YTHDF2   ZBTB8A   ZBTB8B   ZBTB8OS   ZCCHC17  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_28424867)_(33122854_?)del
NC_000001.10:g.(?_28751378)_(33588455_?)del
NC_000001.9:g.(?_28623965)_(33361042_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38128,424,867 - 33,122,854CLINVAR
GRCh37128,751,378 - 33,588,455CLINVAR
Build 36128,623,965 - 33,361,042CLINVAR
Cytogenetic Map11p35.3-35.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483020
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
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.