Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV163383 (GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1) Homo sapiens

Symbol: CV163383
Name: GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1
Condition: See cases [RCV000141948]
Clinical Significance: pathogenic
Last Evaluated: 08/02/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ATOH8   C2orf68   CAPG   CD8A   CD8B   CHMP3   CYTOR   EIF2AK3   EIF2AK3-DT   ELMOD3   FABP1   FOXI3   GGCX   GNLY   IMMT   KCMF1   KDM3A   KRCC1   LINC01964   MAT2A   MIR4435-1   MIR4436A   MIR4771-1   MIR4779   MIR4780   MIR6071   MRPL35   PARTICL   PLGLB1   PLGLB2   POLR1A   PTCD3   REEP1   RETSAT   RGPD1   RGPD2   RMND5A   RNF103   RNF103-CHMP3   RNF181   RPIA   SFTPB   SH2D6   SMYD1   SNORD94   ST3GAL5   ST3GAL5-AS1   TCF7L1   TCF7L1-IT1   TEX37   TGOLN2   THNSL2   TMEM150A   USP39   VAMP5   VAMP8  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_85014686)_(88826619_?)del
Human AssemblyChrPosition (strand)Source
GRCh38285,014,686 - 88,826,619CLINVAR
GRCh37285,241,809 - 89,126,132CLINVAR
Build 36285,095,320 - 88,907,247CLINVAR
Cytogenetic Map22p11.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489469
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


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