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Variant : CV159051 (GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1) Homo sapiens

Symbol: CV159051
Name: GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1
Condition: See cases [RCV000138348]
Clinical Significance: pathogenic
Last Evaluated: 09/18/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACTR10   ARID4A   ARMH4   C14orf39   CCDC175   DAAM1   DACT1   DHRS7   GPHB5   GPR135   HIF1A   HIF1A-AS1   HIF1A-AS2   HIF1A-AS3   JKAMP   KCNH5   KIAA0586   L3HYPDH   LINC00216   LINC00643   LINC00644   LINC01303   LINC01500   LINC02322   LRRC9   MIR5586   MIR9718   MNAT1   PCNX4   PPM1A   PPP2R5E   PRKCH   PSMA3   PSMA3-AS1   RHOJ   RTN1   SALRNA1   SGPP1   SIX1   SIX4   SIX6   SLC35F4   SLC38A6   SNAPC1   SYNE2   SYT16   TIMM9   TMEM30B   TOMM20L   TRK-CTT1-1   TRMT5   WDR89  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_57653413)_(64093528_?)del
NC_000014.8:g.(?_58120131)_(64560246_?)del
NC_000014.7:g.(?_57189884)_(63629999_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381457,653,413 - 64,093,528CLINVAR
GRCh371458,120,131 - 64,560,246CLINVAR
Build 361457,189,884 - 63,629,999CLINVAR
Cytogenetic Map1414q23.1-23.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485897
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.