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Variant : CV157750 (GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4) Homo sapiens

Symbol: CV157750
Name: GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4
Condition: See cases [RCV000137095]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CILK1   EFHC1   ELOVL5   FBXO9   GCLC   GCM1   GSTA1   GSTA2   GSTA3   GSTA4   GSTA5   IL17A   IL17F   KLHL31   LINC01564   LINCMD1   LRRC1   MCM3   MIR133B   MIR206   MIR5685   PAQR8   PKHD1   RN7SK   TMEM14A   TRAM2   TRAM2-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_51093754)_(53859634_?)dup
NC_000006.11:g.(?_51061467)_(53724432_?)dup
NC_000006.10:g.(?_51169426)_(53832391_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38651,093,754 - 53,859,634CLINVAR
GRCh37651,061,467 - 53,724,432CLINVAR
Build 36651,169,426 - 53,832,391CLINVAR
Cytogenetic Map66p12.3-12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484654
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.