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Variant : CV158695 (GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1) Homo sapiens

Symbol: CV158695
Name: GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1
Condition: See cases [RCV000138006]
Clinical Significance: pathogenic
Last Evaluated: 01/13/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AFG1L   AK9   AMD1   ARMC2   ARMC2-AS1   CCN6   CD164   CDC40   CDK19   CEP57L1   DDO   FAM229B   FIG4   FOXO3   FYN   GPR6   GTF3C6   HDAC2   HDAC2-AS2   HS3ST5   LAMA4   LAMA4-AS1   LINC00222   LINC02518   LINC02527   LINC02534   LINC02541   LINC02880   MARCKS   METTL24   MFSD4B   MICAL1   MROCKI   NR2E1   OSTM1   OSTM1-AS1   PDSS2   PPIL6   REV3L   RFPL4B   RPF2   SCML4   SEC63   SESN1   SLC16A10   SLC22A16   SMPD2   SNORA40C   SNORD166   SNX3   SOBP   TRAF3IP2   TRAF3IP2-AS1   TUBE1   WASF1   ZBTB24  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_107370141)_(115827482_?)del
NC_000006.11:g.(?_107691345)_(116148646_?)del
NC_000006.10:g.(?_107798038)_(116255339_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh386107,370,141 - 115,827,482CLINVAR
GRCh376107,691,345 - 116,148,646CLINVAR
Build 366107,798,038 - 116,255,339CLINVAR
Cytogenetic Map66q21-22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485555
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.