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Variant : CV164214 (GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1) Homo sapiens

Symbol: CV164214
Name: GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1
Condition: See cases [RCV000142527]
Clinical Significance: pathogenic
Last Evaluated: 01/14/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADGRB3   AL357507.1   AL590428.1   AL646090.1   B3GAT2   BCKDHB   CD109   CGAS   COL12A1   COL19A1   COL9A1   COX7A2   DDX43   DOP1A   DPPA5   EEF1A1   ELOVL4   EYS   FAM135A   FAM135A-AS1   FILIP1   HMGN3   HMGN3-AS1   HTR1B   IBTK   IMPG1   IRAK1BP1   KCNQ5   KCNQ5-AS1   KCNQ5-IT1   KHDC1   KHDC1L   KHDC3L   LCA5   LCAL1   LINC00472   LINC01526   LINC01621   LINC01626   LINC02540   LINC02542   LINC02549   LMBRD1   ME1   MEI4   MIR10524   MIR30A   MIR30C2   MIR4282   MIR4463   MTO1   MYO6   OGFRL1   OOEP   OOEP-AS1   PGM3   PHIP   RIMS1   RWDD2A   SDHAF4   SENP6   SH3BGRL2   SLC17A5   SMAP1   SNORD156   TENT5A   TMEM30A   TMEM30A-DT   TPBG   TTK   UBE3D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_64549655)_(83426791_?)del
NC_000006.11:g.(?_65259548)_(84136510_?)del
NC_000006.10:g.(?_65316269)_(84193229_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38664,549,655 - 83,426,791CLINVAR
GRCh37665,259,548 - 84,136,510CLINVAR
Build 36665,316,269 - 84,193,229CLINVAR
Cytogenetic Map66q12-14.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490125
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.