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Variant : CV156043 (GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1) Homo sapiens

Symbol: CV156043
Name: GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1
Condition: See cases [RCV000135597]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGMAT   ARHGEF19   C1orf195   CASP9   CELA2A   CELA2B   CLCNKA   CLCNKB   CPLANE2   CTRC   DDI2   DNAJC16   EFHD2   EPHA2   FAM131C   FBLIM1   FBXO42   FHAD1   FHAD1-AS1   HSPB7   KAZN   LINC01772   NECAP2   PLEKHM2   RSC1A1   SCARNA21B   SLC25A34   SLC25A34-AS1   SPATA21   SPEN   SRARP   SZRD1   TMEM51   TMEM51-AS1   TMEM82   UQCRHL   ZBTB17  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_15052047)_(16499873_?)del
NC_000001.10:g.(?_15378543)_(16826368_?)del
NC_000001.9:g.(?_15251130)_(16698955_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38115,052,047 - 16,499,873CLINVAR
GRCh37115,378,543 - 16,826,368CLINVAR
Build 36115,251,130 - 16,698,955CLINVAR
Cytogenetic Map11p36.21-36.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483169
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.