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Variant : CV157567 (GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1) Homo sapiens

Symbol: CV157567
Name: GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1
Condition: See cases [RCV000136949]
Clinical Significance: uncertain significance
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARAP3   DELE1   DIAPH1   DIAPH1-AS1   FCHSD1   GNPDA1   HDAC3   NDFIP1   PCDH1   PCDH12   PCDHA1   PCDHA10   PCDHA11   PCDHA12   PCDHA13   PCDHA2   PCDHA3   PCDHA4   PCDHA5   PCDHA6   PCDHA7   PCDHA8   PCDHA9   PCDHA@   PCDHAC1   PCDHAC2   PCDHACT   PCDHB1   PCDHB10   PCDHB11   PCDHB12   PCDHB13   PCDHB14   PCDHB15   PCDHB16   PCDHB2   PCDHB3   PCDHB4   PCDHB5   PCDHB6   PCDHB7   PCDHB8   PCDHB9   PCDHB@   PCDHG@   PCDHGA1   PCDHGA10   PCDHGA11   PCDHGA12   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGA7   PCDHGA8   PCDHGA9   PCDHGB1   PCDHGB2   PCDHGB3   PCDHGB4   PCDHGB5   PCDHGB6   PCDHGB7   PCDHGC3   PCDHGC4   PCDHGC5   RELL2   RNF14   SLC25A2   SPRY4   SPRY4-IT1   TAF7  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_140963199)_(142322798_?)del
NC_000005.9:g.(?_140453735)_(141702363_?)del
NC_000005.8:g.(?_140322968)_(141682547_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh385140,963,199 - 142,322,798CLINVAR
GRCh375140,453,735 - 141,702,363 (+)CLINVAR
Build 365140,322,968 - 141,682,547CLINVAR
Cytogenetic Map55q31.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484510
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.