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Variant : CV162100 (GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1) Homo sapiens

Symbol: CV162100
Name: GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1
Condition: See cases [RCV000140907]
Clinical Significance: uncertain significance
Last Evaluated: 04/02/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC034199.1   C5orf58   DOCK2   FBLL1   FOXI1   GABRP   INSYN2B   KCNIP1   KCNIP1-AS1   KCNIP1-OT1   KCNMB1   LCP2   LINC01187   LINC01366   MIR103A1   MIR103B1   MIR218-2   MIR378E   MIR3912   MIR585   NPM1   PANK3   RANBP17   RARS1   SLIT3   SLIT3-AS1   SLIT3-AS2   SNORA70J   SPDL1   TLX3   WWC1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_168433412)_(171417179_?)del
NC_000005.9:g.(?_167860417)_(170844183_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh385168,433,412 - 171,417,179CLINVAR
GRCh375167,860,417 - 170,844,183CLINVAR
Build 365167,792,995 - 170,776,788CLINVAR
Cytogenetic Map55q34-35.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9488435
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.