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Variant : CV163893 (GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1) Homo sapiens

Symbol: CV163893
Name: GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1
Condition: See cases [RCV000142267]
Clinical Significance: pathogenic
Last Evaluated: 03/10/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: C1orf50   CCDC30   CITED4   CLDN19   CTPS1   EDN2   ERMAP   FOXJ3   FOXO6   FOXO6-AS1   GUCA2A   GUCA2B   HIVEP3   KCNQ4   P3H1   PPCS   PPIH   RIMKLA   SCMH1   SLC2A1   SLC2A1-AS1   SLFNL1   SLFNL1-AS1   SVBP   TMEM269   TMEM269-DT   YBX1   ZMYND12   ZNF691  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_40834404)_(43123071_?)del
Human AssemblyChrPosition (strand)Source
GRCh38140,834,404 - 43,123,071CLINVAR
GRCh37141,300,076 - 43,588,742CLINVAR
Build 36141,072,663 - 43,361,329CLINVAR
Cytogenetic Map11p34.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489786
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.