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Variant : CV164215 (GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1) Homo sapiens

Symbol: CV164215
Name: GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1
Condition: See cases [RCV000142528]
Clinical Significance: pathogenic
Last Evaluated: 01/14/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD11   ABHD11-AS1   AC008267.5   AC092637.1   AC211433.1   ASL   AUTS2   BAZ1B   BCL7B   BUD23   CALN1   CASTOR2   CICP24   CLDN3   CLDN4   CLIP2   CRCP   CT66   DNAJC30   EIF4H   ELN   ERV3-1   FKBP6   FZD9   GALNT17   GTF2I   GTF2IRD1   GTF2IRD2   GTF2IRD2B   GUSB   KCTD7   LAT2   LIMK1   LINC00174   LINC01005   LINC01372   LINC02604   LOC100287704   LOC441242   METTL27   MIR10525   MIR3914-1   MIR3914-2   MIR4283-2   MIR4284   MIR4650-1   MIR4650-2   MIR590   MIR6839   MLXIPL   NCF1   NSUN5   POM121   POM121C   RABGEF1   RCC1L   RFC2   SBDS   SNORA15B-1   SNORA15B-2   SNORA22   SNORA22C   SPDYE10P   SPDYE11   SPDYE12P   SPDYE13   SPDYE14   SPDYE15   SPDYE21   SPDYE7P   SPDYE8   SPDYE9   STX1A   TBL2   TMEM248   TMEM270   TPST1   TRIM50   TRIM73   TRIM74   TYW1   TYW1B   VKORC1L1   VPS37D   ZNF107   ZNF117   ZNF117   ZNF138   ZNF273   ZNF679   ZNF680   ZNF727   ZNF735   ZNF736   ZNF92  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_62736364)_(75432710_?)del
NC_000007.13:g.(?_62196742)_(75061986_?)del
NC_000007.12:g.(?_61834177)_(74899922_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38762,736,364 - 75,432,710CLINVAR
GRCh37762,196,742 - 75,061,986CLINVAR
Build 36761,834,177 - 74,899,922CLINVAR
Cytogenetic Map77q11.21-11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490126
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
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.