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Variant : CV155154 (GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3) Homo sapiens

Symbol: CV155154
Name: GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3
Condition: See cases [RCV000134786]
Clinical Significance: pathogenic
Last Evaluated: 08/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ATOH8   C2orf68   CAPG   CD8A   CD8B   CHMP3   CTNNA2   CTNNA2-AS1   CYTOR   DNAH6   EIF2AK3   EIF2AK3-DT   ELMOD3   FABP1   FOXI3   GGCX   GNLY   IGK   IGKC   IGKDEL   IGKJ1   IGKJ2   IGKJ3   IGKJ4   IGKJ5   IGKV1-12   IGKV1-13   IGKV1-16   IGKV1-17   IGKV1-27   IGKV1-33   IGKV1-37   IGKV1-39   IGKV1-5   IGKV1-6   IGKV1-8   IGKV1-9   IGKV1D-12   IGKV1D-13   IGKV1D-16   IGKV1D-17   IGKV1D-33   IGKV1D-37   IGKV1D-39   IGKV1D-42   IGKV1D-43   IGKV1D-8   IGKV2-24   IGKV2-28   IGKV2-30   IGKV2-40   IGKV2D-24   IGKV2D-28   IGKV2D-29   IGKV2D-30   IGKV2D-40   IGKV3-11   IGKV3-15   IGKV3-20   IGKV3-7   IGKV3D-11   IGKV3D-15   IGKV3D-20   IGKV3D-7   IGKV4-1   IGKV5-2   IGKV6-21   IGKV6D-21   IGKV6D-41   IMMT   KCMF1   KDM3A   KRCC1   LINC01809   LINC01815   LINC01851   LINC01964   LRRTM1   LRRTM4   MAT2A   MIR4264   MIR4435-1   MIR4436A   MIR4771-1   MIR4779   MIR4780   MIR6071   MIR8080   MRPL35   PARTICL   PLGLB1   PLGLB2   POLR1A   PTCD3   REEP1   REG1A   REG1B   REG3A   REG3G   RETSAT   RGPD1   RGPD2   RMND5A   RNF103   RNF103-CHMP3   RNF181   RPIA   SFTPB   SH2D6   SMYD1   SNAR-H   SNORD94   ST3GAL5   ST3GAL5-AS1   SUCLG1   TCF7L1   TCF7L1-IT1   TEX37   TGOLN2   THNSL2   TMEM150A   TMSB10   TRABD2A   USP39   VAMP5   VAMP8  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_77025216)_(90282666_?)dup
NC_000002.11:g.(?_77252342)_(91619262_?)dup
NC_000002.10:g.(?_77105850)_(90982989_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38277,025,216 - 90,282,666CLINVAR
GRCh37277,252,342 - 91,619,262CLINVAR
Build 36277,105,850 - 90,982,989CLINVAR
Cytogenetic Map22p12-11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482363
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.