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Variant : CV164965 (GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1) Homo sapiens

Symbol: CV164965
Name: GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1
Condition: See cases [RCV000143278]
Clinical Significance: pathogenic
Last Evaluated: 03/11/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAP2   ATAD5   COPRS   CRLF3   EVI2A   EVI2B   LRRC37B   MIR193A   MIR365B   MIR4724   MIR4725   MIR4733   NF1   OMG   RAB11FIP4   RNF135   SUZ12   TEFM   TRT-CGT4-1   UTP6  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_30678153)_(32073866_?)del
Human AssemblyChrPosition (strand)Source
GRCh381730,678,153 - 32,073,866CLINVAR
GRCh371729,005,171 - 30,400,885CLINVAR
Build 361726,029,297 - 27,424,998CLINVAR
Cytogenetic Map1717q11.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9490876
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.